Unique variants in the BRCA1 gene

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

133 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     

DNA change (genomic) (hg38)     

Published as     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Variant remarks     

Owner     
+/. 1 - c.-232_4484del c.-232-?_4484+?del r.spl? p.? - Pathogenic g.43076488_43125483del - Timothy R Rebbeck et al.(2018) BRCA1_000108 - 1/72 families - Nur Aisyah Athirah
?/? 1 - c.-19-10T>C - r.(=) p.(=) - ClinVar g.43124125A>G - E Thirthagiri et al. (2008)dbSNP BRCA1_000034 rs201866997 - - MyHVP
+/. 2 - c.61del - r.(?) p.(Ile21Serfs*2) - Pathogenic, ClinVar g.43124036del - Timothy R Rebbeck et al.(2018), Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA1_000120 rs273902778 1/72 families, 1/359 - Nur Aisyah Athirah, Nuur Athirah Binti Mohd Daud
+/?, +/. 2 2 c.61delA - r.(?) p.(Ile21Serfs*2) - ClinVar, Pathogenic g.43124036delT - E Thirthagiri et al. (2008)dbSNP, Ava Kwong et al.(2016) BRCA1_000006 rs273902778 - Mutation type: Deletion - frameshift MyHVP, Nur Aisyah Athirah
+/. 1 - c.66dup - r.(?) p.(Glu23Argfs*18) - Pathogenic g.43124031dup - Timothy R Rebbeck et al.(2018) BRCA1_000121 rs80357783 2/72 families - Nur Aisyah Athirah
+/., +/? 4 2 c.66dupA - r.(?) p.(Glu23Argfs*18) - ClinVar, Pathogenic g.43124031dupT - Wei Xiong Wen et al. (2018), dbSNP, ClinVar, E Thirthagiri et al. (2008)dbSNP, Ava Kwong et al.(2016) BRCA1_000008 rs80357783 1/1726, 1/359 Insertion - frameshift Nuur Athirah Binti Mohd Daud, MyHVP, Nur Aisyah Athirah
+/. 3 - c.68_69del - r.(?) p.(Glu23Valfs*17) - ClinVar, Pathogenic g.43124028_43124029del - Peter Choon Eng Kang et al. (2014), dbSNP, (OMIM 0003), ClinVar, Timothy R Rebbeck et al.(2018), 1 more item BRCA1_000055 rs80357914 3/11, 4/72 families, 4/359 - Nuur Athirah Binti Mohd Daud, Nur Aisyah Athirah
+/., +/? 3 2 c.68_69delAG - r.(?) p.(Glu23Valfs*17) - ClinVar, Pathogenic g.43124028_43124029delCT - Wen WX, Allen J, Lai KN, et al.(2018), E Thirthagiri et al. (2008)dbSNP, Ava Kwong et al.(2016) BRCA1_000007 rs80357914 4/17 Mutation type: Deletion - frameshif Nur Aisyah Athirah, MyHVP
-/? 1 - c.81-14C>T - r.(?) p.(Glu1148Argfs*7) - ClinVar g.43092089delC - E Thirthagiri et al. (2008), dbSNP, ClinVar BRCA1_000017 rs80358006 - - MyHVP
+/. 1 - c.81_134del c.81-?_134+?del r.(?) p.(Cys27*) - ClinVar g.43115726_43115779del - Timothy R Rebbeck et al.(2018)dbSNP BRCA1_000122 rs1555599208 2/72 families - Nur Aisyah Athirah
+/. 1 - c.110C>A - r.(?) p.(Thr37Lys) - ClinVar g.43115750G>T - Xiaohong R Yang et al. (2017), dbSNP, ClinVar BRCA1_000063 rs80356880 1/13 - Nuur Athirah Binti Mohd Daud
-/., +/., -/? 3 3 c.114G>A - r.(=) p.(=) - ClinVar, Benign g.43115746C>T - Gaik Theng Toh et al. (2008), dbSNP, ClinVar, Mohamed Saleem et al.(2020), 1 more item BRCA1_000038 rs1800062 1/37 - Nuur Athirah Binti Mohd Daud, Nur Aisyah Athirah, MyHVP
+/. 2 3 c.115T>C C39R r.(?) p.(Cys39Arg) frameshift ClinVar g.43115745A>G C39R P S Ng et al. (2016), dbSNP, ClinVar, Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA1_000044 rs80357164 1/2, 2/490 - Nuur Athirah Binti Mohd Daud
+/. 3 IVS3 c.134+1G>T - r.spl? p.? - Pathogenic/Likely pathogenic, ClinVar g.43115725C>A - Timothy R Rebbeck et al.(2018), Wei Xiong Wen et al. (2018), dbSNP, ClinVar, Ava Kwong et al.(2016) BRCA1_000086 rs80358043 1/72 families, 1/1726 Mutation type: Intervening sequence Nur Aisyah Athirah, Nuur Athirah Binti Mohd Daud
+/. 3 3 c.134+2del - r.spl? p.? - Pathogenic, ClinVar g.43115724del - Timothy R Rebbeck et al.(2018), Gaik Theng Toh et al. (2008), dbSNP, ClinVar BRCA1_000045 rs273897657 1/72 families, 1/37 - Nur Aisyah Athirah, Nuur Athirah Binti Mohd Daud
+/. 2 IVS3 c.134+2delT - r.spl? p.? - Pathogenic g.43115724delA - Wei Xiong Wen et al. (2018), dbSNP, ClinVar, Ava Kwong et al.(2016) BRCA1_000087 rs273897657 1/1726 Mutation type: Intervening sequence Nuur Athirah Binti Mohd Daud, Nur Aisyah Athirah
+/. 4 4i, IVS4 c.135-1G>C - r.spl? p.? - Pathogenic, ClinVar g.43106534C>G - Timothy R Rebbeck et al.(2018), Hanis Nazihah Hasmad et al. (2016), dbSNP, ClinVar, 2 more items BRCA1_000084 rs80358158 3/72 families, 1/5, 1/359 Mutation type: Intervening sequence Nur Aisyah Athirah, Nuur Athirah Binti Mohd Daud
+/. 1 - c.150del - r.(?) p.(Lys50Asnfs*19) - Pathogenic g.43106518del - Timothy R Rebbeck et al.(2018) BRCA1_000111 rs273897662 1/72 families - Nur Aisyah Athirah
+/. 2 5 c.150delA - r.(?) p.(Lys50Asnfs*19) - ClinVar, Pathogenic g.43106518delT - Wei Xiong Wen et al. (2018), dbSNP, ClinVar, Ava Kwong et al.(2016) BRCA1_000125 rs273897662 1/359 Mutattion type: Deletion - frameshift Nuur Athirah Binti Mohd Daud, Nur Aisyah Athirah
./. 1 5 c.181T>C - r.(?) p.(Cys61Arg) - ClinVar g.43106487A>G - P S Ng et al. (2016), dbSNP, ClinVar BRCA1_000069 rs28897672 1/5 - Nuur Athirah Binti Mohd Daud
+/. 1 - c.182G>A - r.(?) p.(Cys61Tyr) - ClinVar g.43106486C>T - Xiaohong R Yang et al. (2017), dbSNP, ClinVar BRCA1_000062 rs80357093 1/13 - Nuur Athirah Binti Mohd Daud
+/. 1 - c.190T>C - r.(?) p.(Cys64Arg) missense Pathogenic​ g.43106478A>G - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA1_000092 rs80357064 1/1762 VUS (variants of unknown significance.) Nuur Athirah Binti Mohd Daud
+/. 1 - c.211A>G - r.(?) p.(Arg71Gly) - ClinVar g.43106457T>C - Xiaohong R Yang et al. (2017), dbSNP, ClinVar BRCA1_000061 rs80357382 1/13 - Nuur Athirah Binti Mohd Daud
+/? 1 - c.212+1G>T - r.spl? p.? - ClinVar g.43106455C>A - E Thirthagiri et al. (2008)dbSNP BRCA1_000018 rs80358042 - - MyHVP
+/., +/? 4 IVS5 c.213-12A>G - r.(=) p.(=) - Pathogenic, ClinVar g.43104968T>C - Timothy R Rebbeck et al.(2018), Wei Xiong Wen et al. (2018), dbSNP, ClinVar, Ava Kwong et al.(2016), 1 more item BRCA1_000019 rs80358163 1/72 families, 1/1726 Mutation type: Intervening sequence Nur Aisyah Athirah, Nuur Athirah Binti Mohd Daud, MyHVP
+/. 1 - c.216C>G - r.(?) p.(Ser72Arg) missense Uncertain significance g.43104953G>C - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA1_000107 rs80356967 1/490 VUS (variants of unknown significance) Nuur Athirah Binti Mohd Daud
-?/? 1 7 c.372C>A - r.(=) p.(=) - ClinVar g.43104191G>T - E Thirthagiri et al. (2008)dbSNP BRCA1_000020 rs273900715 - - MyHVP
+/. 2 - c.470_471del - r.(?) p.(Ser157*) - Pathogenic, ClinVar g.43099851_43099852del - Timothy R Rebbeck et al.(2018), Peter Choon Eng Kang et al. (2014), dbSNP, ClinVar BRCA1_000052 rs80357887 3/72 families, 2/14 - Nur Aisyah Athirah, Nuur Athirah Binti Mohd Daud
+/., +/? 3 8 c.470_471delCT - r.(?) p.(Ser157*) - ClinVar, Pathogenic g.43099851_43099852delAG - Wei Xiong Wen et al. (2018), dbSNP, ClinVar, E Thirthagiri et al. (2008)dbSNP, Ava Kwong et al.(2016) BRCA1_000009 rs80357887 2/1726 Mutation type: Deletion - frameshif Nuur Athirah Binti Mohd Daud, MyHVP, Nur Aisyah Athirah
+/. 3 8 c.505C>T - r.(?) p.(Gln169*) - Pathogenic, ClinVar g.43099817G>A - Timothy R Rebbeck et al.(2018), Wei Xiong Wen et al. (2018), dbSNP, ClinVar, Ava Kwong et al.(2016) BRCA1_000094 rs80357133 1/72 families, 1/490 Mutattion type: Nonsense Nur Aisyah Athirah, Nuur Athirah Binti Mohd Daud
+/. 1 - c.533T>A - r.(?) p.(Val178Asp) missense Uncertain significance g.43099789A>T - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA1_000106 rs876660085 1/490 VUS (variants of unknown significance) Nuur Athirah Binti Mohd Daud
-/. 2 - c.548-58del IVS8-57delT r.(=) p.(=) - ClinVar g.43097347del IVS8-57delT P Balraj et al. (2002), dbSNP, ClinVar BRCA1_000085 rs8176144 1/8, 1/7 - Nuur Athirah Binti Mohd Daud
+/. 1 - c.548-57del - r.(=) p.(=) - ClinVar g.43097346del - P Balraj et al. (2002), dbSNP, ClinVar BRCA1_000042 rs1567804371 16/30 - Nuur Athirah Binti Mohd Daud
-/., -/? 2 -, 9 c.571G>A - r.(?) p.(Val191Ile) - ClinVar g.43097266C>T - Kah Nyin Lai et al. (2017), dbSNP, ClinVar, E Thirthagiri et al. (2008)dbSNP BRCA1_000021 rs80357090 11/1464 - Nuur Athirah Binti Mohd Daud, MyHVP
+/., ?/. 2 10 c.594-2A>G - r.spl? p.? - ClinVar g.43095924T>C - Wei Xiong Wen et al. (2018), dbSNP, ClinVar, P S Ng et al. (2016), dbSNP, ClinVar BRCA1_000068 rs80358033 1/1726, 1/5 - Nuur Athirah Binti Mohd Daud
+/. 2 11 c.686_687delCT - r.(?) p.(Ser229*) - ClinVar g.43094844_43094845delAG - P S Ng et al. (2016)dbSNP, Wei Xiong Wen et al. (2018) BRCA1_000043 rs746766787 1/2, 1/490 - Nuur Athirah Binti Mohd Daud
+/. 3 11 c.726delT - r.(?) p.(Ser242Argfs*5) - - g.43094805delA - P S Ng et al. (2016), Wei Xiong Wen et al. (2018) BRCA1_000065 - 1/2, 1/490, 1/359 - Nuur Athirah Binti Mohd Daud
?/? 1 11 c.754C>T - r.(?) p.(Arg252Cys) - ClinVar g.43094777G>A - E Thirthagiri et al. (2008)dbSNP BRCA1_000022 rs273902786 - - MyHVP
-/? 1 11 c.795T>C - r.(=) p.(=) - ClinVar g.43094736A>G - E Thirthagiri et al. (2008)dbSNP BRCA1_000023 rs201441987 - - MyHVP
-/. 1 - c.823G>A - r.(?) p.(Gly275Ser) - ClinVar g.43094708C>T - Kah Nyin Lai et al. (2017), dbSNP, ClinVar BRCA1_000047 rs8176153 2/1464 - Nuur Athirah Binti Mohd Daud
+/. 2 11 c.829_830del - r.(?) p.(Asn277Tyrfs*9) - Pathogenic, ClinVar g.43094701_43094702del - Timothy R Rebbeck et al.(2018), Hanis Nazihah Hasmad et al. (2016), dbSNP, ClinVar BRCA1_000082 rs886040323 1/72 families, 1/5 - Nur Aisyah Athirah, Nuur Athirah Binti Mohd Daud
+/. 1 11 c.829_830delAA - r.(?) p.(Asn277Tyrfs*9) - Pathogenic g.43094701_43094702delTT - Ava Kwong et al.(2016) BRCA1_000126 rs886040323 - Mutation type: Deletion - frameshif Nur Aisyah Athirah
+/. 3 11 c.850C>T - r.(?) p.(Gln284*) - Pathogenic, ClinVar g.43094681G>A - Timothy R Rebbeck et al.(2018), Wei Xiong Wen et al. (2018), dbSNP, ClinVar, Ava Kwong et al.(2016) BRCA1_000123 rs397509330 1/72 families, 1/359 Mutation type: Nonsense Nur Aisyah Athirah, Nuur Athirah Binti Mohd Daud
+/. 1 - c.964del - r.(?) p.(Ala322Leufs*19) - Pathogenic g.43094567del - Timothy R Rebbeck et al.(2018) BRCA1_000124 rs273903794 1/72 families - Nur Aisyah Athirah
+/. 1 11 c.964delG - r.(?) p.(Ala322Leufs*19) - Pathogenic g.43094567delC - Ava Kwong et al.(2016) BRCA1_000128 rs273903794 - Mutation type: Deletion - frameshif Nur Aisyah Athirah
+/. 2 - c.981_982del - r.(?) p.(Cys328*) - ClinVar, Pathogenic g.43094549_43094550del - Peter Choon Eng Kang et al. (2014), dbSNP, ClinVar, Timothy R Rebbeck et al.(2018) BRCA1_000053 rs80357772 1/14, 1/72 families - Nuur Athirah Binti Mohd Daud, Nur Aisyah Athirah
+/., +/? 3 11 c.981_982delAT - r.(?) p.(Cys328*) - ClinVar, Pathogenic g.43094549_43094550delAT - Wei Xiong Wen et al. (2018), dbSNP, ClinVar, E Thirthagiri et al. (2008)dbSNP, Ava Kwong et al.(2016) BRCA1_000010 rs80357772 1/1726 Mutation type: Deletion - frameshift Nuur Athirah Binti Mohd Daud, MyHVP, Nur Aisyah Athirah
-/. 1 - c.1036C>T - r.(?) p.(Pro346Ser) - ClinVar g.43094495G>A - Kah Nyin Lai et al. (2017), dbSNP, ClinVar BRCA1_000048 rs80357015 2/1464 - Nuur Athirah Binti Mohd Daud
+/. 3 11 c.1054G>T - r.(?) p.(Glu352*) - Pathogenic, ClinVar g.43094477C>A - Timothy R Rebbeck et al.(2018), Wei Xiong Wen et al. (2018), dbSNP, ClinVar, Ava Kwong et al.(2016) BRCA1_000109 rs80357472 1/72 families, 1/359 Mutation type: Nonsense Nur Aisyah Athirah, Nuur Athirah Binti Mohd Daud
+/. 1 - c.1104del - r.(?) p.(Asp369Metfs*5) - Pathogenic g.43094427del - Timothy R Rebbeck et al.(2018) BRCA1_000110 rs886039927 1/72 families - Nur Aisyah Athirah
+/. 2 11 c.1104delA - r.(?) p.(Asp369Metfs*5) - Pathogenic g.43094427delT - Wei Xiong Wen et al. (2018), dbSNP, ClinVar, Ava Kwong et al.(2016) BRCA1_000088 rs886039927 1/1726 Mutation type: Deletion - frameshif Nuur Athirah Binti Mohd Daud, Nur Aisyah Athirah
+/. 1 - c.1140dup - r.(?) p.(Lys381Glufs*3) - ClinVar g.43094391dup - Xiaohong R Yang et al. (2017), dbSNP, ClinVar BRCA1_000060 rs876659327 1/13 - Nuur Athirah Binti Mohd Daud
+/. 4 -, 11 c.1204G>T - r.(?) p.(Glu402*) - Pathogenic, ClinVar g.43094327C>A - Timothy R Rebbeck et al.(2018), Peter Choon Eng Kang et al. (2014), dbSNP, ClinVar, 2 more items BRCA1_000050 rs273897655 2/72 families, 2/7, 2/490 Mutation type: Nonsense Nur Aisyah Athirah, Nuur Athirah Binti Mohd Daud
+/. 1 11 c.1492dupC - r.(?) p.(Leu498Profs*4) - - g.43094039dupG - Hanis Nazihah Hasmad et al. (2016) BRCA1_000076 - 1/7 - Nuur Athirah Binti Mohd Daud
+/. 1 - c.1504_1508delTTAAA - r.(?) p.(Leu502Alafs*2) - ClinVar g.43094023_43094027delTTTAA - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA1_000089 rs80357888 1/1726 - Nuur Athirah Binti Mohd Daud
-?/. 1 11 c.1873C>T - r.(=) p.(=) - ClinVar g.43093658G>A - Gaik Theng Toh et al. (2008), dbSNP, ClinVar BRCA1_000046 rs769044421 1/37 - Nuur Athirah Binti Mohd Daud
+/. 1 - c.1881_1884del - r.(?) p.(Ser628Glufs*3) - Pathogenic g.43093647_43093650del - Timothy R Rebbeck et al.(2018) BRCA1_000112 rs80357567 1/72 families - Nur Aisyah Athirah
+/. 1 - c.1961dup - r.(?) p.(Tyr655Valfs*18) - Pathogenic g.43093570dup - Timothy R Rebbeck et al.(2018) BRCA1_000113 rs80357522 1/72 families - Nur Aisyah Athirah
+/. 2 11 c.1996del - r.(?) p.(Leu666Tyrfs*35) - Pathogenic, ClinVar g.43093535del - Timothy R Rebbeck et al.(2018), Hanis Nazihah Hasmad et al. (2016), dbSNP, ClinVar BRCA1_000071 rs80357922 1/72 families, 1/5 - Nur Aisyah Athirah, Nuur Athirah Binti Mohd Daud
+/. 1 11 c.1996delC - r.(?) p.(Leu666Tyrfs*35) - Pathogenic g.43093535delG - Ava Kwong et al.(2016) BRCA1_000130 rs80357922 - Mutation type: Deletion - frameshif Nur Aisyah Athirah
+/. 3 11 c.2059C>T - r.(?) p.(Gln687*) - Pathogenic, ClinVar g.43093472G>A - Timothy R Rebbeck et al.(2018), Hanis Nazihah Hasmad et al. (2016), dbSNP, ClinVar, 1 more item BRCA1_000072 rs273898674 1/72 families, 1/5 Mutation type: Nonsense Nur Aisyah Athirah, Nuur Athirah Binti Mohd Daud
+/. 2 - c.2070_2071del - r.(?) p.(Arg691Thrfs*2) - Pathogenic, ClinVar g.43093460_43093461del - Timothy R Rebbeck et al.(2018), Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA1_000095 rs80357688 1/72 families, 1/490 - Nur Aisyah Athirah, Nuur Athirah Binti Mohd Daud
-/., +/., -/? 3 11 c.2077G>A - r.(?) p.(Asp693Asn) - ClinVar, Benign g.43093454C>T - Gaik Theng Toh et al. (2008), dbSNP, ClinVar, Mohamed Saleem et al.(2020), 1 more item BRCA1_000039 rs4986850 1/37 - Nuur Athirah Binti Mohd Daud, Nur Aisyah Athirah, MyHVP
+/., -/., -/? 7 -, 11 c.2082C>T 2201 C>T r.(=) p.(=) - ClinVar, Benign g.43093449G>A 2201 C>T P Balraj et al. (2002), dbSNP, ClinVar, Gaik Theng Toh et al. (2008), dbSNP, ClinVar, 2 more items BRCA1_000040 rs1799949 4/30, 1/8, 10/37, 15/37, 3/37 - Nuur Athirah Binti Mohd Daud, Nur Aisyah Athirah, MyHVP
-/., +/., -/? 4 11, - c.2286A>T - r.(?) p.(Arg762Ser) - ClinVar, Benign, ClinVar g.43093245T>A - Gaik Theng Toh et al. (2008), dbSNP, ClinVar, Kah Nyin Lai et al. (2017), dbSNP, ClinVar, 2 more items BRCA1_000025 rs273898682 1/37, 1/1463 - Nuur Athirah Binti Mohd Daud, Nur Aisyah Athirah, MyHVP
-/., +/., -/? 8 -, 11 c.2311T>C 2430 T>C, 2430T>C r.(=) p.(=) - ClinVar, Benign g.43093220A>G 2430 T>C, 2430T>C P Balraj et al. (2002), dbSNP, ClinVar, Gaik Theng Toh et al. (2008), dbSNP, ClinVar, 2 more items BRCA1_000041 rs16940 18/30, 1/8, 10/37, 1/7, 15/37, 3/37 - Nuur Athirah Binti Mohd Daud, Nur Aisyah Athirah, MyHVP
+/., -/., -/? 4 11 c.2566T>C c.2685T>C, Y856H r.(?) p.(Tyr856His) - Benign, ClinVar g.43092965A>G - A S Khoo et al.(2000), Gaik Theng Toh et al. (2008), dbSNP, ClinVar, Mohamed Saleem et al.(2020), 1 more item BRCA1_000026 rs80356892 1/37 - Nur Aisyah Athirah, Nuur Athirah Binti Mohd Daud, MyHVP
-/., +/. 7 11, - c.2612C>T 2731C>T r.(?) p.(Pro871Leu) - ClinVar g.43092919G>A 2731C>T Toh GT et al. (2008)dbSNPClinVar, P Balraj et al. (2002), dbSNP, ClinVar, 1 more item BRCA1_000001 rs799917 19/30, 1/8, 10/37, 1/7, 15/37, 3/37 - MyHVP, Nuur Athirah Binti Mohd Daud
+/. 6 11 c.2635G>T - r.(?) p.(Glu879*) - Pathogenic, ClinVar g.43092896C>A - Timothy R Rebbeck et al.(2018), Wei Xiong Wen et al. (2018), dbSNP, ClinVar, Ava Kwong et al.(2016), 2 more items BRCA1_000077 rs80357251 5/72 families, 2/1726, 1/490, 1/7 Mutation type: Nonsense Nur Aisyah Athirah, Nuur Athirah Binti Mohd Daud
./., ?/? 2 -, 11 c.2726A>T - r.(?) p.(Asn909Ile) - ClinVar g.43092805T>A - Kah Nyin Lai et al. (2017), dbSNP, ClinVar, E Thirthagiri et al. (2008), dbSNP, ClinVar BRCA1_000027 rs80357127 4/1462 - Nuur Athirah Binti Mohd Daud, MyHVP
+/. 2 11 c.2726dup - r.(?) p.(Asn909Lysfs*6) - Pathogenic, ClinVar g.43092805dup - Timothy R Rebbeck et al.(2018), Hanis Nazihah Hasmad et al. (2016), dbSNP, ClinVar BRCA1_000073 rs80357614 3/72 families, 1/5 - Nur Aisyah Athirah, Nuur Athirah Binti Mohd Daud
+/?, +/. 2 11 c.2726dupA - r.(?) p.(Asn909Lysfs*6) - ClinVar, Pathogenic g.43092805dupT - E Thirthagiri et al. (2008), dbSNP ,ClinVar, Ava Kwong et al.(2016) BRCA1_000036 rs80357614 - Mutation type: Insertion - frameshift MyHVP, Nur Aisyah Athirah
?/? 1 11 c.2739T>A - r.(?) p.(Asn913Lys) - ClinVar g.43092792A>T - E Thirthagiri et al. (2008), dbSNP, ClinVar BRCA1_000028 rs273899688 - - MyHVP
+/. 1 11 c.2754G>T E879X r.(?) p.(Lys918Asn) - Uncertain significance g.43092777C>A - A S Khoo et al.(2000) BRCA1_000131 rs398122668 - - Nur Aisyah Athirah
-?/., +/., -?/? 3 11 c.2931A>G - r.(=) p.(=) - ClinVar, Likely benign, ClinVar g.43092600T>C - Gaik Theng Toh et al. (2008), dbSNP, ClinVar, Mohamed Saleem et al.(2018), 1 more item BRCA1_000029 rs273899691 1/37 - Nuur Athirah Binti Mohd Daud, Nur Aisyah Athirah, MyHVP
+/. 1 - c.3008_3009del - r.(?) p.(Phe1003*) - ClinVar g.43092522_43092523del - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA1_000096 rs80357617 1/490 - Nuur Athirah Binti Mohd Daud
+/. 1 - c.3075_3076insGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCACA - r.(?) p.(Ile1026Glyfs*4) - Pathogenic g.43092455_43092456insTGTGCTCACTGTACTTGGAATGATCTCATTTCCCATTTCTCTTTCAGGTGACATTGAATGTTCCTCAAAGTTTTCC - Timothy R Rebbeck et al.(2018) BRCA1_000114 rs886040095 1/72 families - Nur Aisyah Athirah
-/., +/. 8 11, - c.3113A>G 3232A>G r.(?) p.(Glu1038Gly) - ClinVar, ClinVar, Benign g.43092418T>C 3232A>G Toh GT et al. (2008), dbSNP, ClinVar, P Balraj et al. (2002), dbSNP, ClinVar, 2 more items BRCA1_000002 rs16941 14/30, 1/8, 10/37, 1/7, 15/37, 3/37 - MyHVP, Nuur Athirah Binti Mohd Daud, Nur Aisyah Athirah
+/. 1 - c.3214del - r.(?) p.(Leu1072*) - ClinVar g.43092317del - Xiaohong R Yang et al. (2017), dbSNP, ClinVar BRCA1_000059 rs80357923 2/13 - Nuur Athirah Binti Mohd Daud
+/. 2 - c.3228_3229del - r.(?) p.(Gly1077Alafs*8) - Pathogenic, ClinVar g.43092302_43092303del - Timothy R Rebbeck et al.(2018), Xiaohong R Yang et al. (2017), dbSNP, ClinVar BRCA1_000058 rs80357635 1/72 families, 1/13 - Nur Aisyah Athirah, Nuur Athirah Binti Mohd Daud
+/. 1 - c.3288_3289del - r.(?) p.(Leu1098Serfs*4) - ClinVar g.43092242_43092243del - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA1_000097 rs80357686 1/490 - Nuur Athirah Binti Mohd Daud
+/. 1 - c.3323_3326del - r.(?) p.(Ile1108Lysfs*8) - ClinVar​ g.43092205_43092208del - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA1_000098 rs80357763 1/490 - Nuur Athirah Binti Mohd Daud
+/. 2 11 c.3333del - r.(?) p.(Glu1112Asnfs*5) - Pathogenic, ClinVar g.43092198del - Timothy R Rebbeck et al.(2018), Hanis Nazihah Hasmad et al. (2016), dbSNP, ClinVar BRCA1_000081 rs80357966 1/72 families, 1/7 - Nur Aisyah Athirah, Nuur Athirah Binti Mohd Daud
+/. 1 11 c.3333delA - r.(?) p.(Glu1112Asnfs*5) - Pathogenic g.43092198delT - Ava Kwong et al.(2016) BRCA1_000129 rs80357966 - Mutation type: Deletion - frameshift Nur Aisyah Athirah
+/. 1 - c.3424delG - r.(?) p.(Ala1142Hisfs*13) - ClinVar g.43092107delC - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA1_000090 rs1555587718 1/1726 - Nuur Athirah Binti Mohd Daud
?/? 1 11 c.3518G>A - r.(?) p.(Ser1173Asn) - ClinVar g.43092013C>T - E Thirthagiri et al. (2008), dbSNP, ClinVar BRCA1_000011 rs746949187 - - MyHVP
-/., +/. 8 11, - c.3548A>G 3667A>G r.(?) p.(Lys1183Arg) - ClinVar, ClinVar, Benign g.43091983T>C 3667A>G Toh GT et al. (2008)dbSNPClinVar, P Balraj et al. (2002), dbSNP, ClinVar, Mohamed Saleem et al.(2018), 1 more item BRCA1_000003 rs16942 19/30, 1/8, 10/37, 1/7, 15/37, 3/37 - MyHVP, Nuur Athirah Binti Mohd Daud, Nur Aisyah Athirah
+/. 2 - c.3607C>T - r.(?) p.(Arg1203*) - ClinVar, ClinVar g.43091924G>A - Xiaohong R Yang et al. (2017), dbSNP, ClinVar, 1 more item BRCA1_000057 rs62625308, rs273897655 1/13, 1/359 - Nuur Athirah Binti Mohd Daud
?/. 1 - c.3625T>G - r.(?) p.(Leu1209Val) - ClinVar g.43091906A>C - Kah Nyin Lai et al. (2017), dbSNP, ClinVar BRCA1_000049 rs273900711 2/1461 - Nuur Athirah Binti Mohd Daud
+/. 1 - c.3649T>C - r.(?) p.(Ser1217Pro) missense Uncertain significance g.43091882A>G - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA1_000093 rs273900712 2/1726 VUS (variants of unknown significance.) Nuur Athirah Binti Mohd Daud
+/. 3 11 c.3661G>T - r.(?) p.(Glu1221*) - Pathogenic, ClinVar g.43091870C>A - Timothy R Rebbeck et al.(2018), Hanis Nazihah Hasmad et al. (2016), dbSNP, ClinVar, 1 more item BRCA1_000078 rs80357310 1/72 families, 1/7 Mutation type: Nonsense Nur Aisyah Athirah, Nuur Athirah Binti Mohd Daud
./., ?/? 2 -, 11 c.3662A>C - r.(?) p.(Glu1221Ala) - ClinVar g.43091869T>G - Kah Nyin Lai et al. (2017), dbSNP, ClinVar, E Thirthagiri et al. (2008)dbSNP BRCA1_000030 rs273900713 3/1464 - Nuur Athirah Binti Mohd Daud, MyHVP
+/. 1 - c.3724A>G - r.(?) p.(Thr1242Ala) missense Benign g.43091807T>C - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA1_000102 rs80357037 1/490 VUS (variants of unknown significance) Nuur Athirah Binti Mohd Daud
+/. 2 11 c.3770_3771del - r.(?) p.(Glu1257Glyfs*9) - Pathogenic, ClinVar g.43091760_43091761del - Timothy R Rebbeck et al.(2018), P S Ng et al. (2016), dbSNP, ClinVar BRCA1_000067 rs80357579 3/72 families, 2/5 - Nur Aisyah Athirah, Nuur Athirah Binti Mohd Daud
+/., +/? 3 11 c.3770_3771delAG - r.(?) p.(Glu1257Glyfs*9) - ClinVar, Pathogenic g.43091760_43091761delCT - Wei Xiong Wen et al. (2018), dbSNP, ClinVar, E Thirthagiri et al. (2008)dbSNP, Ava Kwong et al.(2016) BRCA1_000013 rs80357579, rs80357310 2/1726 Mutation type: Deletion - frameshift Nuur Athirah Binti Mohd Daud, MyHVP, Nur Aisyah Athirah
?/? 1 11 c.3803A>G - r.(?) p.(Asn1268Ser) - ClinVar g.43091728T>C - E Thirthagiri et al. (2008)dbSNP BRCA1_000031 rs273900716 - - MyHVP
+/. 1 - c.3856del - r.(?) p.(Ser1286Valfs*21) - Pathogenic g.43091675del - Timothy R Rebbeck et al.(2018) BRCA1_000115 rs80357855 1/72 families - Nur Aisyah Athirah
+/. 2 11 c.3856delA - r.(?) p.(Ser1286Valfs*21) - ClinVar, Pathogenic g.43091675delT - Wei Xiong Wen et al. (2018), dbSNP, ClinVar, Ava Kwong et al.(2016) BRCA1_000099 rs80357855 1/490 Mutation type: Deletion - frameshift Nuur Athirah Binti Mohd Daud, Nur Aisyah Athirah
+/. 1 - c.3869_3870del - r.(?) p.(Lys1290Metfs*4) - ClinVar g.43091661_43091662del - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA1_000100 rs80357918 1/490 - Nuur Athirah Binti Mohd Daud
+/. 3 11 c.3893C>A - r.(?) p.(Ser1298*) - Pathogenic, ClinVar g.43091638G>T - Timothy R Rebbeck et al.(2018), Hanis Nazihah Hasmad et al. (2016), dbSNP, ClinVar, 1 more item BRCA1_000079 rs80357440 1/72 families, 1/7 Mutation type: Nonsense Nur Aisyah Athirah, Nuur Athirah Binti Mohd Daud
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