Full data view for gene BRCA1

Information The variants shown are described using the NM_007294.3 transcript reference sequence.

289 entries on 3 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     

Allele     

DNA change (genomic) (hg38)     

Published as     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Variant remarks     

Template     

Technique     

Disease     

Reference     

Gender     

Geographic origin     

Ethnic origin     

Population     

Remarks     

Microattribution     

Panel size     

Owner     
+/. - c.-232_4484del c.-232-?_4484+?del r.spl? p.? - Pathogenic Unknown g.43076488_43125483del - Timothy R Rebbeck et al.(2018) BRCA1_000108 - 1/72 families - DNA SEQ Breast cancer Timothy R Rebbeck et al.(2018) F Malaysia - - - - 1 Nur Aisyah Athirah
?/? - c.-19-10T>C - r.(=) p.(=) - ClinVar Unknown g.43124125A>G - E Thirthagiri et al. (2008)dbSNP BRCA1_000034 rs201866997 - - - - - - - - - - - - - -
+/. - c.61del - r.(?) p.(Ile21Serfs*2) - ClinVar Unknown g.43124036del - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA1_000120 rs273902778 1/359 - DNA MLPA, SEQ-NG-I BRCA1 Wei Xiong Wen et al. (2018) - Malaysia Indian - - - 1 Nuur Athirah Binti Mohd Daud
+/. - c.61del - r.(?) p.(Ile21Serfs*2) - Pathogenic Unknown g.43124036del - Timothy R Rebbeck et al.(2018) BRCA1_000120 rs273902778 1/72 families - DNA SEQ Breast cancer Timothy R Rebbeck et al.(2018) F Malaysia - - - - 1 Nur Aisyah Athirah
+/? 2 c.61delA - r.(?) p.(Ile21Serfs*2) - ClinVar Unknown g.43124036delT - E Thirthagiri et al. (2008)dbSNP BRCA1_000006 rs273902778 - - DNA ? BRCA1 E Thirthagiri; et al. (2008) - - - - - - 1 MyHVP
+/. 2 c.61delA - r.(?) p.(Ile21Serfs*2) - Pathogenic Unknown g.43124036delT - Ava Kwong et al.(2016) BRCA1_000006 rs273902778 - Mutation type: Deletion - frameshift DNA SEQ Breast cancer Ava Kwong et al.(2016) - Malaysia Indian - - - 1 Nur Aisyah Athirah
+/. - c.66dup - r.(?) p.(Glu23Argfs*18) - Pathogenic Unknown g.43124031dup - Timothy R Rebbeck et al.(2018) BRCA1_000121 rs80357783 2/72 families - DNA SEQ Breast cancer Timothy R Rebbeck et al.(2018) F Malaysia - - - - 1 Nur Aisyah Athirah
+/? 2 c.66dupA - r.(?) p.(Glu23Argfs*18) - ClinVar Unknown g.43124031dupT - E Thirthagiri et al. (2008)dbSNP BRCA1_000008 rs80357783 - - - - - - - - - - - - - -
+/. - c.66dupA - r.(?) p.(Glu23Argfs*18) - ClinVar Unknown g.43124031dupT - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA1_000008 rs80357783 1/1726 - DNA MLPA, SEQ-NG-I BRCA1 Wei Xiong Wen et al. (2018) - Malaysia Chinese - - - 1 Nuur Athirah Binti Mohd Daud
+/. - c.66dupA - r.(?) p.(Glu23Argfs*18) - ClinVar Unknown g.43124031dupT - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA1_000008 rs80357783 1/359 - DNA MLPA, SEQ-NG-I BRCA1 Wei Xiong Wen et al. (2018) - Malaysia Indian - - - 1 Nuur Athirah Binti Mohd Daud
+/. 2 c.66dupA - r.(?) p.(Glu23Argfs*18) - Pathogenic Unknown g.43124031dupT - Ava Kwong et al.(2016) BRCA1_000008 rs80357783 - Insertion - frameshift DNA SEQ Breast cancer Ava Kwong et al.(2016) - Malaysia Chinese - - - 1 Nur Aisyah Athirah
+/. - c.68_69del - r.(?) p.(Glu23Valfs*17) - ClinVar Unknown g.43124028_43124029del - Peter Choon Eng Kang et al. (2014), dbSNP, (OMIM 0003), ClinVar BRCA1_000055 rs80357914 3/11 - DNA ? BRCA1 Peter Choon Eng Kang et al. (2014) F Malaysia Indian - - - 1 Nuur Athirah Binti Mohd Daud
+/. - c.68_69del - r.(?) p.(Glu23Valfs*17) - - Unknown g.43124028_43124029del - Wei Xiong Wen et al. (2018), dbSNP, (OMIM 0003), ClinVar BRCA1_000055 rs80357914 4/359 - DNA MLPA, SEQ-NG-I BRCA1 Wei Xiong Wen et al. (2018) - Malaysia Indian - - - 1 Nuur Athirah Binti Mohd Daud
+/. - c.68_69del - r.(?) p.(Glu23Valfs*17) - Pathogenic Unknown g.43124028_43124029del - Timothy R Rebbeck et al.(2018) BRCA1_000055 rs80357914 4/72 families - DNA SEQ Breast cancer Timothy R Rebbeck et al.(2018) F Malaysia - - - - 1 Nur Aisyah Athirah
+/? 2 c.68_69delAG - r.(?) p.(Glu23Valfs*17) - ClinVar Unknown g.43124028_43124029delCT - E Thirthagiri et al. (2008)dbSNP BRCA1_000007 rs80357914 - - - - - - - - - - - - - -
+/. - c.68_69delAG - r.(?) p.(Glu23Valfs*17) - - Unknown g.43124028_43124029delCT - Wen WX, Allen J, Lai KN, et al.(2018) BRCA1_000007 rs80357914 4/17 - DNA SEQ BRCA1 Wen WX et al.(2018) - Malaysia - - - - 1 Nur Aisyah Athirah
+/. 2 c.68_69delAG - r.(?) p.(Glu23Valfs*17) - Pathogenic Unknown g.43124028_43124029delCT - Ava Kwong et al.(2016) BRCA1_000007 rs80357914 - Mutation type: Deletion - frameshif DNA SEQ Breast cancer Ava Kwong et al.(2016) - Malaysia Indian - - - 1 Nur Aisyah Athirah
-/? - c.81-14C>T - r.(?) p.(Glu1148Argfs*7) - ClinVar Unknown g.43092089delC - E Thirthagiri et al. (2008), dbSNP, ClinVar BRCA1_000017 rs80358006 - - - - - - - - - - - - - -
+/. - c.81_134del c.81-?_134+?del r.(?) p.(Cys27*) - ClinVar Unknown g.43115726_43115779del - Timothy R Rebbeck et al.(2018)dbSNP BRCA1_000122 rs1555599208 2/72 families - DNA SEQ Breast cancer Timothy R Rebbeck et al.(2018) F Malaysia - - - - 1 Nur Aisyah Athirah
+/. - c.110C>A - r.(?) p.(Thr37Lys) - ClinVar Unknown g.43115750G>T - Xiaohong R Yang et al. (2017), dbSNP, ClinVar BRCA1_000063 rs80356880 1/13 - DNA MLPA, SEQ BRCA1 Xiaohong R Yang et al. (2017) F Malaysia - Sarawak - - 1 Nuur Athirah Binti Mohd Daud
-/? 3 c.114G>A - r.(=) p.(=) - ClinVar Unknown g.43115746C>T - E Thirthagiri et al. (2008)dbSNP BRCA1_000038 rs1800062 - - - - - - - - - - - - - -
-/. 3 c.114G>A - r.(=) p.(=) - ClinVar Unknown g.43115746C>T - Gaik Theng Toh et al. (2008), dbSNP, ClinVar BRCA1_000038 rs1800062 1/37 - DNA PCR BRCA1 Gaik Theng Toh et al. (2008) F Malaysia Chinese - - - 1 Nuur Athirah Binti Mohd Daud
+/. 3 c.114G>A - r.(=) p.(=) - Benign Unknown g.43115746C>T - Mohamed Saleem et al.(2020) BRCA1_000038 rs1800062 - - DNA PCR Breast cancer Mohamed Saleem et al.(2018) F (Seberang Jaya, Penang) - - - - 1 Nur Aisyah Athirah
+/. 3 c.115T>C - r.(?) p.(Cys39Arg) - ClinVar Unknown g.43115745A>G - P S Ng et al. (2016), dbSNP, ClinVar BRCA1_000044 rs80357164 1/2 - DNA SEQ BRCA1 P S Ng et al. (2016) F Malaysia Malay - - - 1 Nuur Athirah Binti Mohd Daud
+/. - c.115T>C C39R r.(?) p.(Cys39Arg) frameshift ClinVar Unknown g.43115745A>G C39R Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA1_000044 rs80357164 2/490 - DNA MLPA, SEQ-NG-I BRCA1 Wei Xiong Wen et al. (2018) - Malaysia Malay - - - 1 Nuur Athirah Binti Mohd Daud
+/. - c.134+1G>T - r.spl? p.? - ClinVar Unknown g.43115725C>A - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA1_000086 rs80358043 1/1726 - DNA MLPA, SEQ-NG-I BRCA1 Wei Xiong Wen et al. (2018) - Malaysia Chinese - - - 1 Nuur Athirah Binti Mohd Daud
+/. - c.134+1G>T - r.spl? p.? - Pathogenic/Likely pathogenic Unknown g.43115725C>A - Timothy R Rebbeck et al.(2018) BRCA1_000086 rs80358043 1/72 families - DNA SEQ Breast cancer Timothy R Rebbeck et al.(2018) F Malaysia - - - - 1 Nur Aisyah Athirah
+/. IVS3 c.134+1G>T - r.spl? p.? - Pathogenic/Likely pathogenic Unknown g.43115725C>A - Ava Kwong et al.(2016) BRCA1_000086 rs80358043 - Mutation type: Intervening sequence DNA SEQ Breast cancer Ava Kwong et al.(2016) - Malaysia Chinese - - - 1 Nur Aisyah Athirah
+/. 3 c.134+2del - r.spl? p.? - ClinVar Unknown g.43115724del - Gaik Theng Toh et al. (2008), dbSNP, ClinVar BRCA1_000045 rs273897657 1/37 - DNA PCR BRCA1 Gaik Theng Toh et al. (2008) F Malaysia Chinese - - - 1 Nuur Athirah Binti Mohd Daud
+/. - c.134+2del - r.spl? p.? - Pathogenic Unknown g.43115724del - Timothy R Rebbeck et al.(2018) BRCA1_000045 rs273897657 1/72 families - DNA SEQ Breast cancer Timothy R Rebbeck et al.(2018) F Malaysia - - - - 1 Nur Aisyah Athirah
+/. - c.134+2del - r.spl? p.? - Pathogenic Unknown g.43115724del - Timothy R Rebbeck et al.(2018) BRCA1_000045 rs273897657 1/72 families - DNA SEQ Breast cancer Timothy R Rebbeck et al.(2018) F Malaysia - - - - 1 Nur Aisyah Athirah
+/. - c.134+2delT - r.spl? p.? - - Unknown g.43115724delA - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA1_000087 rs273897657 1/1726 - DNA MLPA, SEQ-NG-I BRCA1 Wei Xiong Wen et al. (2018) - Malaysia Chinese - - - 1 Nuur Athirah Binti Mohd Daud
+/. IVS3 c.134+2delT - r.spl? p.? - Pathogenic Unknown g.43115724delA - Ava Kwong et al.(2016) BRCA1_000087 rs273897657 - Mutation type: Intervening sequence DNA SEQ Breast cancer Ava Kwong et al.(2016) - Malaysia Chinese - - - 1 Nur Aisyah Athirah
+/. 4i c.135-1G>C - r.spl? p.? - ClinVar Unknown g.43106534C>G - Hanis Nazihah Hasmad et al. (2016), dbSNP, ClinVar BRCA1_000084 rs80358158 1/5 - DNA PCRm, SEQ BRCA1 Hanis Nazihah Hasmad et al. (2016) F Malaysia Indian - - - 1 Nuur Athirah Binti Mohd Daud
+/. - c.135-1G>C - r.spl? p.? - ClinVar Unknown g.43106534C>G - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA1_000084 rs80358158 1/359 - DNA MLPA, SEQ-NG-I BRCA1 Wei Xiong Wen et al. (2018) - Malaysia Indian - - - 1 Nuur Athirah Binti Mohd Daud
+/. - c.135-1G>C - r.spl? p.? - Pathogenic Unknown g.43106534C>G - Timothy R Rebbeck et al.(2018) BRCA1_000084 rs80358158 3/72 families - DNA SEQ Breast cancer Timothy R Rebbeck et al.(2018) F Malaysia - - - - 1 Nur Aisyah Athirah
+/. IVS4 c.135-1G>C - r.spl? p.? - Pathogenic Unknown g.43106534C>G - Ava Kwong et al.(2016) BRCA1_000084 rs80358158 - Mutation type: Intervening sequence DNA SEQ Breast cancer Ava Kwong et al.(2016) - Malaysia Indian - - - 1 Nur Aisyah Athirah
+/. - c.150del - r.(?) p.(Lys50Asnfs*19) - Pathogenic Unknown g.43106518del - Timothy R Rebbeck et al.(2018) BRCA1_000111 rs273897662 1/72 families - DNA SEQ Breast cancer Timothy R Rebbeck et al.(2018) F Malaysia - - - - 1 Nur Aisyah Athirah
+/. - c.150delA - r.(?) p.(Lys50Asnfs*19) - ClinVar Unknown g.43106518delT - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA1_000125 rs273897662 1/359 - DNA MLPA, SEQ-NG-I BRCA1 Wei Xiong Wen et al. (2018) - Malaysia Indian - - - 1 Nuur Athirah Binti Mohd Daud
+/. 5 c.150delA - r.(?) p.(Lys50Asnfs*19) - Pathogenic Unknown g.43106518delT - Ava Kwong et al.(2016) BRCA1_000125 rs273897662 - Mutattion type: Deletion - frameshift DNA SEQ Breast cancer Ava Kwong et al.(2016) - Malaysia Indian - - - 1 Nur Aisyah Athirah
./. 5 c.181T>C - r.(?) p.(Cys61Arg) - ClinVar Unknown g.43106487A>G - P S Ng et al. (2016), dbSNP, ClinVar BRCA1_000069 rs28897672 1/5 - DNA SEQ BRCA1 P S Ng et al. (2016) F Malaysia Chinese - - - 1 Nuur Athirah Binti Mohd Daud
+/. - c.182G>A - r.(?) p.(Cys61Tyr) - ClinVar Unknown g.43106486C>T - Xiaohong R Yang et al. (2017), dbSNP, ClinVar BRCA1_000062 rs80357093 1/13 - DNA MLPA, SEQ BRCA1 Xiaohong R Yang et al. (2017) F Malaysia - Sarawak - - 1 Nuur Athirah Binti Mohd Daud
+/. - c.190T>C - r.(?) p.(Cys64Arg) missense Pathogenic​ Unknown g.43106478A>G - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA1_000092 rs80357064 1/1762 VUS (variants of unknown significance.) DNA MLPA, SEQ-NG-I BRCA1 Wei Xiong Wen et al. (2018) - Malaysia Chinese - - - 1 Nuur Athirah Binti Mohd Daud
+/. - c.211A>G - r.(?) p.(Arg71Gly) - ClinVar Unknown g.43106457T>C - Xiaohong R Yang et al. (2017), dbSNP, ClinVar BRCA1_000061 rs80357382 1/13 - DNA MLPA, SEQ BRCA1 Xiaohong R Yang et al. (2017) F Malaysia - Sarawak - - 1 Nuur Athirah Binti Mohd Daud
+/? - c.212+1G>T - r.spl? p.? - ClinVar Unknown g.43106455C>A - E Thirthagiri et al. (2008)dbSNP BRCA1_000018 rs80358042 - - - - - - - - - - - - - -
+/? - c.213-12A>G - r.(=) p.(=) - ClinVar Unknown g.43104968T>C - E Thirthagiri et al. (2008)dbSNP BRCA1_000019 rs80358163 - - - - - - - - - - - - - -
+/. - c.213-12A>G - r.(=) p.(=) - ClinVar Unknown g.43104968T>C - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA1_000019 rs80358163 1/1726 - DNA MLPA, SEQ-NG-I BRCA1 Wei Xiong Wen et al. (2018) - Malaysia Chinese - - - 1 Nuur Athirah Binti Mohd Daud
+/. - c.213-12A>G - r.(=) p.(=) - Pathogenic Unknown g.43104968T>C - Timothy R Rebbeck et al.(2018) BRCA1_000019 rs80358163 1/72 families - DNA SEQ Breast cancer Timothy R Rebbeck et al.(2018) F Malaysia - - - - 1 Nur Aisyah Athirah
+/. IVS5 c.213-12A>G - r.(=) p.(=) - Pathogenic Unknown g.43104968T>C - Ava Kwong et al.(2016) BRCA1_000019 rs80358163 - Mutation type: Intervening sequence DNA SEQ Breast cancer Ava Kwong et al.(2016) - Malaysia Chinese - - - 1 Nur Aisyah Athirah
+/. - c.216C>G - r.(?) p.(Ser72Arg) missense Uncertain significance Unknown g.43104953G>C - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA1_000107 rs80356967 1/490 VUS (variants of unknown significance) DNA MLPA, SEQ-NG-I BRCA1 Wei Xiong Wen et al. (2018) - Malaysia Malay - - - 1 Nuur Athirah Binti Mohd Daud
-?/? 7 c.372C>A - r.(=) p.(=) - ClinVar Unknown g.43104191G>T - E Thirthagiri et al. (2008)dbSNP BRCA1_000020 rs273900715 - - - - - - - - - - - - - -
+/. - c.470_471del - r.(?) p.(Ser157*) - ClinVar Unknown g.43099851_43099852del - Peter Choon Eng Kang et al. (2014), dbSNP, ClinVar BRCA1_000052 rs80357887 2/14 - DNA ? BRCA1 Peter Choon Eng Kang et al. (2014) F Malaysia Chinese - - - 1 Nuur Athirah Binti Mohd Daud
+/. - c.470_471del - r.(?) p.(Ser157*) - Pathogenic Unknown g.43099851_43099852del - Timothy R Rebbeck et al.(2018) BRCA1_000052 rs80357887 3/72 families - DNA SEQ Breast cancer Timothy R Rebbeck et al.(2018) F Malaysia - - - - 1 Nur Aisyah Athirah
+/? 8 c.470_471delCT - r.(?) p.(Ser157*) - ClinVar Unknown g.43099851_43099852delAG - E Thirthagiri et al. (2008)dbSNP BRCA1_000009 rs80357887 - - - - - - - - - - - - - -
+/. - c.470_471delCT - r.(?) p.(Ser157*) - ClinVar Unknown g.43099851_43099852delAG - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA1_000009 rs80357887 2/1726 - DNA MLPA, SEQ-NG-I BRCA1 Wei Xiong Wen et al. (2018) - Malaysia Chinese - - - 1 Nuur Athirah Binti Mohd Daud
+/. 8 c.470_471delCT - r.(?) p.(Ser157*) - Pathogenic Unknown g.43099851_43099852delAG - Ava Kwong et al.(2016) BRCA1_000009 rs80357887 - Mutation type: Deletion - frameshif DNA SEQ Breast cancer Ava Kwong et al.(2016) - Malaysia Chinese - - - 1 Nur Aisyah Athirah
+/. - c.505C>T - r.(?) p.(Gln169*) - ClinVar Unknown g.43099817G>A - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA1_000094 rs80357133 1/490 - DNA MLPA, SEQ-NG-I BRCA1 Wei Xiong Wen et al. (2018) - Malaysia Malay - - - 1 Nuur Athirah Binti Mohd Daud
+/. - c.505C>T - r.(?) p.(Gln169*) - Pathogenic Unknown g.43099817G>A - Timothy R Rebbeck et al.(2018) BRCA1_000094 rs80357133 1/72 families - DNA SEQ Breast cancer Timothy R Rebbeck et al.(2018) F Malaysia - - - - 1 Nur Aisyah Athirah
+/. 8 c.505C>T - r.(?) p.(Gln169*) - Pathogenic Unknown g.43099817G>A - Ava Kwong et al.(2016) BRCA1_000094 rs80357133 - Mutattion type: Nonsense DNA SEQ Breast cancer Ava Kwong et al.(2016) - Malaysia Malay - - - 1 Nur Aisyah Athirah
+/. - c.533T>A - r.(?) p.(Val178Asp) missense Uncertain significance Unknown g.43099789A>T - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA1_000106 rs876660085 1/490 VUS (variants of unknown significance) DNA MLPA, SEQ-NG-I BRCA1 Wei Xiong Wen et al. (2018) - Malaysia Malay - - - 1 Nuur Athirah Binti Mohd Daud
-/. - c.548-58del IVS8-57delT r.(=) p.(=) - ClinVar Unknown g.43097347del IVS8-57delT P Balraj et al. (2002), dbSNP, ClinVar BRCA1_000085 rs8176144 1/8 - DNA PCR BRCA1 P Balraj et al. (2002) F Malaysia Chinese - - - 1 Nuur Athirah Binti Mohd Daud
-/. - c.548-58del IVS8-57delT r.(=) p.(=) - ClinVar Unknown g.43097347del IVS8-57delT P Balraj et al. (2002), dbSNP, ClinVar BRCA1_000085 rs8176144 1/7 - DNA PCR BRCA1 P Balraj et al. (2002) F Malaysia Indian - - - 1 Nuur Athirah Binti Mohd Daud
+/. - c.548-57del - r.(=) p.(=) - ClinVar Unknown g.43097346del - P Balraj et al. (2002), dbSNP, ClinVar BRCA1_000042 rs1567804371 16/30 - DNA PCR BRCA1 P Balraj et al. (2002) F Malaysia Malay - - - 1 Nuur Athirah Binti Mohd Daud
-/? 9 c.571G>A - r.(?) p.(Val191Ile) - ClinVar Unknown g.43097266C>T - E Thirthagiri et al. (2008)dbSNP BRCA1_000021 rs80357090 - - - - - - - - - - - - - -
-/. - c.571G>A - r.(?) p.(Val191Ile) - ClinVar Unknown g.43097266C>T - Kah Nyin Lai et al. (2017), dbSNP, ClinVar BRCA1_000021 rs80357090 11/1464 - DNA ? BRCA1 Kah Nyin Lai F Malaysia - - - - 1 Nuur Athirah Binti Mohd Daud
?/. 10 c.594-2A>G - r.spl? p.? - ClinVar Unknown g.43095924T>C - P S Ng et al. (2016), dbSNP, ClinVar BRCA1_000068 rs80358033 1/5 - DNA SEQ BRCA1 P S Ng et al. (2016) F Malaysia Chinese - - - 1 Nuur Athirah Binti Mohd Daud
+/. - c.594-2A>G - r.spl? p.? - ClinVar Unknown g.43095924T>C - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA1_000068 rs80358033 1/1726 - DNA MLPA, SEQ-NG-I BRCA1 Wei Xiong Wen et al. (2018) - Malaysia Chinese - - - 1 Nuur Athirah Binti Mohd Daud
+/. 11 c.686_687delCT - r.(?) p.(Ser229*) - ClinVar Unknown g.43094844_43094845delAG - P S Ng et al. (2016)dbSNP BRCA1_000043 rs746766787 1/2 - DNA SEQ BRCA1 P S Ng et al. (2016) F Malaysia Malay - - - 1 Nuur Athirah Binti Mohd Daud
+/. - c.686_687delCT - r.(?) p.(Ser229*) - - Unknown g.43094844_43094845delAG - Wei Xiong Wen et al. (2018) BRCA1_000043 rs746766787 1/490 - DNA MLPA, SEQ-NG-I BRCA1 Wei Xiong Wen et al. (2018) - Malaysia Malay - - - 1 Nuur Athirah Binti Mohd Daud
+/. 11 c.726delT - r.(?) p.(Ser242Argfs*5) - - Unknown g.43094805delA - P S Ng et al. (2016) BRCA1_000065 - 1/2 - DNA SEQ BRCA1 P S Ng et al. (2016) F Malaysia Indian - - - 1 Nuur Athirah Binti Mohd Daud
+/. - c.726delT - r.(?) p.(Ser242Argfs*5) - - Unknown g.43094805delA - Wei Xiong Wen et al. (2018) BRCA1_000065 - 1/490 - DNA MLPA, SEQ-NG-I BRCA1 Wei Xiong Wen et al. (2018) - Malaysia Malay - - - 1 Nuur Athirah Binti Mohd Daud
+/. - c.726delT - r.(?) p.(Ser242Argfs*5) - - Unknown g.43094805delA - Wei Xiong Wen et al. (2018) BRCA1_000065 - 1/359 - DNA MLPA, SEQ-NG-I BRCA1 Wei Xiong Wen et al. (2018) - Malaysia Indian - - - 1 Nuur Athirah Binti Mohd Daud
?/? 11 c.754C>T - r.(?) p.(Arg252Cys) - ClinVar Unknown g.43094777G>A - E Thirthagiri et al. (2008)dbSNP BRCA1_000022 rs273902786 - - - - - - - - - - - - - -
-/? 11 c.795T>C - r.(=) p.(=) - ClinVar Unknown g.43094736A>G - E Thirthagiri et al. (2008)dbSNP BRCA1_000023 rs201441987 - - - - - - - - - - - - - -
-/. - c.823G>A - r.(?) p.(Gly275Ser) - ClinVar Unknown g.43094708C>T - Kah Nyin Lai et al. (2017), dbSNP, ClinVar BRCA1_000047 rs8176153 2/1464 - DNA ? BRCA1 Kah Nyin Lai F Malaysia - - - - 1 Nuur Athirah Binti Mohd Daud
+/. 11 c.829_830del - r.(?) p.(Asn277Tyrfs*9) - ClinVar Unknown g.43094701_43094702del - Hanis Nazihah Hasmad et al. (2016), dbSNP, ClinVar BRCA1_000082 rs886040323 1/5 - DNA PCRm, SEQ BRCA1 Hanis Nazihah Hasmad et al. (2016) F Malaysia Indian - - - 1 Nuur Athirah Binti Mohd Daud
+/. - c.829_830del - r.(?) p.(Asn277Tyrfs*9) - Pathogenic Unknown g.43094701_43094702del - Timothy R Rebbeck et al.(2018) BRCA1_000082 rs886040323 1/72 families - DNA SEQ Breast cancer Timothy R Rebbeck et al.(2018) F Malaysia - - - - 1 Nur Aisyah Athirah
+/. 11 c.829_830delAA - r.(?) p.(Asn277Tyrfs*9) - Pathogenic Unknown g.43094701_43094702delTT - Ava Kwong et al.(2016) BRCA1_000126 rs886040323 - Mutation type: Deletion - frameshif DNA SEQ Breast cancer Ava Kwong et al.(2016) - Malaysia Indian - - - 1 Nur Aisyah Athirah
+/. - c.850C>T - r.(?) p.(Gln284*) - ClinVar Unknown g.43094681G>A - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA1_000123 rs397509330 1/359 - DNA MLPA, SEQ-NG-I BRCA1 Wei Xiong Wen et al. (2018) - Malaysia Indian - - - 1 Nuur Athirah Binti Mohd Daud
+/. - c.850C>T - r.(?) p.(Gln284*) - Pathogenic Unknown g.43094681G>A - Timothy R Rebbeck et al.(2018) BRCA1_000123 rs397509330 1/72 families - DNA SEQ Breast cancer Timothy R Rebbeck et al.(2018) F Malaysia - - - - 1 Nur Aisyah Athirah
+/. 11 c.850C>T - r.(?) p.(Gln284*) - Pathogenic Unknown g.43094681G>A - Ava Kwong et al.(2016) BRCA1_000123 rs397509330 - Mutation type: Nonsense DNA SEQ Breast cancer Ava Kwong et al.(2016) - Malaysia Indian - - - 1 Nur Aisyah Athirah
+/. - c.964del - r.(?) p.(Ala322Leufs*19) - Pathogenic Unknown g.43094567del - Timothy R Rebbeck et al.(2018) BRCA1_000124 rs273903794 1/72 families - DNA SEQ Breast cancer Timothy R Rebbeck et al.(2018) F Malaysia - - - - 1 Nur Aisyah Athirah
+/. 11 c.964delG - r.(?) p.(Ala322Leufs*19) - Pathogenic Unknown g.43094567delC - Ava Kwong et al.(2016) BRCA1_000128 rs273903794 - Mutation type: Deletion - frameshif DNA SEQ Breast cancer Ava Kwong et al.(2016) - Malaysia Chinese - - - 1 Nur Aisyah Athirah
+/. - c.981_982del - r.(?) p.(Cys328*) - ClinVar Unknown g.43094549_43094550del - Peter Choon Eng Kang et al. (2014), dbSNP, ClinVar BRCA1_000053 rs80357772 1/14 - DNA ? BRCA1 Peter Choon Eng Kang et al. (2014) F Malaysia Chinese - - - 1 Nuur Athirah Binti Mohd Daud
+/. - c.981_982del - r.(?) p.(Cys328*) - Pathogenic Unknown g.43094549_43094550del - Timothy R Rebbeck et al.(2018) BRCA1_000053 rs80357772 1/72 families - DNA SEQ Breast cancer Timothy R Rebbeck et al.(2018) F Malaysia - - - - 1 Nur Aisyah Athirah
+/? 11 c.981_982delAT - r.(?) p.(Cys328*) - ClinVar Unknown g.43094549_43094550delAT - E Thirthagiri et al. (2008)dbSNP BRCA1_000010 rs80357772 - - - - - - - - - - - - - -
+/. - c.981_982delAT - r.(?) p.(Cys328*) - ClinVar Unknown g.43094549_43094550delAT - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA1_000010 rs80357772 1/1726 - DNA MLPA, SEQ-NG-I BRCA1 Wei Xiong Wen et al. (2018) - Malaysia Chinese - - - 1 Nuur Athirah Binti Mohd Daud
+/. 11 c.981_982delAT - r.(?) p.(Cys328*) - Pathogenic Unknown g.43094549_43094550delAT - Ava Kwong et al.(2016) BRCA1_000010 rs80357772 - Mutation type: Deletion - frameshift DNA SEQ Breast cancer Ava Kwong et al.(2016) - Malaysia Chinese - - - 1 Nur Aisyah Athirah
-/. - c.1036C>T - r.(?) p.(Pro346Ser) - ClinVar Unknown g.43094495G>A - Kah Nyin Lai et al. (2017), dbSNP, ClinVar BRCA1_000048 rs80357015 2/1464 - DNA ? BRCA1 Kah Nyin Lai F Malaysia - - - - 1 Nuur Athirah Binti Mohd Daud
+/. - c.1054G>T - r.(?) p.(Glu352*) - ClinVar Unknown g.43094477C>A - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA1_000109 rs80357472 1/359 - DNA MLPA, SEQ-NG-I BRCA1 Wei Xiong Wen et al. (2018) - Malaysia Indian - - - 1 Nuur Athirah Binti Mohd Daud
+/. - c.1054G>T - r.(?) p.(Glu352*) - Pathogenic Unknown g.43094477C>A - Timothy R Rebbeck et al.(2018) BRCA1_000109 rs80357472 1/72 families - DNA SEQ Breast cancer Timothy R Rebbeck et al.(2018) F Malaysia - - - - 1 Nur Aisyah Athirah
+/. 11 c.1054G>T - r.(?) p.(Glu352*) - Pathogenic Unknown g.43094477C>A - Ava Kwong et al.(2016) BRCA1_000109 rs80357472 - Mutation type: Nonsense DNA SEQ Breast cancer Ava Kwong et al.(2016) - Malaysia Indian - - - 1 Nur Aisyah Athirah
+/. - c.1104del - r.(?) p.(Asp369Metfs*5) - Pathogenic Unknown g.43094427del - Timothy R Rebbeck et al.(2018) BRCA1_000110 rs886039927 1/72 families - DNA SEQ Breast cancer Timothy R Rebbeck et al.(2018) F Malaysia - - - - 1 Nur Aisyah Athirah
+/. - c.1104delA - r.(?) p.(Asp369Metfs*5) - - Unknown g.43094427delT - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA1_000088 rs886039927 1/1726 - DNA MLPA, SEQ-NG-I BRCA1 Wei Xiong Wen et al. (2018) - Malaysia Chinese - - - 1 Nuur Athirah Binti Mohd Daud
+/. 11 c.1104delA - r.(?) p.(Asp369Metfs*5) - Pathogenic Unknown g.43094427delT - Ava Kwong et al.(2016) BRCA1_000088 rs886039927 - Mutation type: Deletion - frameshif DNA SEQ Breast cancer Ava Kwong et al.(2016) - Malaysia Chinese - - - 1 Nur Aisyah Athirah
+/. - c.1140dup - r.(?) p.(Lys381Glufs*3) - ClinVar Unknown g.43094391dup - Xiaohong R Yang et al. (2017), dbSNP, ClinVar BRCA1_000060 rs876659327 1/13 - DNA MLPA, SEQ BRCA1 Xiaohong R Yang et al. (2017) F Malaysia - Sarawak - - 1 Nuur Athirah Binti Mohd Daud
+/. - c.1204G>T - r.(?) p.(Glu402*) - ClinVar Unknown g.43094327C>A - Peter Choon Eng Kang et al. (2014), dbSNP, ClinVar BRCA1_000050 rs273897655 2/7 - DNA ? BRCA1 Peter Choon Eng Kang et al. (2014) F Malaysia Malay - - - 1 Nuur Athirah Binti Mohd Daud
+/. - c.1204G>T - r.(?) p.(Glu402*) - ClinVar Unknown g.43094327C>A - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA1_000050 rs273897655 2/490 - DNA MLPA, SEQ-NG-I BRCA1 Wei Xiong Wen et al. (2018) - Malaysia Malay - - - 1 Nuur Athirah Binti Mohd Daud
+/. - c.1204G>T - r.(?) p.(Glu402*) - Pathogenic Unknown g.43094327C>A - Timothy R Rebbeck et al.(2018) BRCA1_000050 rs273897655 2/72 families - DNA SEQ Breast cancer Timothy R Rebbeck et al.(2018) F Malaysia - - - - 1 Nur Aisyah Athirah
+/. 11 c.1204G>T - r.(?) p.(Glu402*) - Pathogenic Unknown g.43094327C>A - Ava Kwong et al.(2016) BRCA1_000050 rs273897655 - Mutation type: Nonsense DNA SEQ Breast cancer Ava Kwong et al.(2016) - Malaysia Malay - - - 1 Nur Aisyah Athirah
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