PMID: 21990134

A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).

Human mutation
NM Lindor, L Guidugli, X Wang, MP Vallée, AN Monteiro, S Tavtigian, DE Goldgar, FJ Couch
2012-01

274 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
13-32929222-A-C BRCA2 c.7232A>C p.Lys2411Thr Missense 14/27 -
17-41267744-T-G BRCA1 c.133A>C p.Lys45Gln Missense 3/23 -
17-41234523-C-G BRCA1 c.4255G>C p.Glu1419Gln Missense 12/23 -
13-32950932-A-G BRCA2 c.8754+4A>G - IntronicSNV - 21/26
13-32914712-C-A BRCA2 c.6220C>A p.His2074Asn Missense 11/27 -
17-41226387-C-T BRCA1 c.4636G>A p.Asp1546Asn Missense 14/23 -
17-41197715-T-G BRCA1 c.5572A>C p.Ile1858Leu Missense 23/23 -
13-32929242-A-G BRCA2 c.7252A>G p.Arg2418Gly Missense 14/27 -
13-32929326-A-G BRCA2 c.7336A>G p.Lys2446Glu Missense 14/27 -
17-41245588-T-G BRCA1 c.1960A>C p.Lys654Gln Missense 10/23 -
17-41246657-C-T BRCA1 c.891G>A p.Met297Ile Missense 10/23 -
17-41256281-G-A BRCA1 c.302-3C>T - IntronicSNV - 5/22
13-32912331-A-T BRCA2 c.3839A>T p.Asp1280Val Missense 11/27 -
17-41215396-G-T BRCA1 c.5153-6C>A - IntronicSNV - 17/22
13-32972695-A-G BRCA2 c.10045A>G p.Thr3349Ala Missense 27/27 -
17-41245233-A-G BRCA1 c.2315T>C p.Val772Ala Missense 10/23 -
17-41249297-G-T BRCA1 c.557C>A p.Ser186Tyr Missense 8/23 -
17-41256153-C-T BRCA1 c.427G>A p.Glu143Lys Missense 6/23 -
17-41243800-C-T BRCA1 c.3748G>A p.Glu1250Lys Missense 10/23 -
13-32937327-A-T BRCA2 c.7988A>T p.Glu2663Val Missense 18/27 -
13-32906593-C-A BRCA2 c.978C>A p.Ser326Arg Missense 10/27 -
13-32914815-G-A BRCA2 c.6323G>A p.Arg2108His Missense 11/27 -
13-32911547-C-G BRCA2 c.3055C>G p.Leu1019Val Missense 11/27 -
13-32920979-G-A BRCA2 c.6953G>A p.Arg2318Gln Missense 13/27 -
17-41226423-C-T BRCA1 c.4600G>A p.Val1534Met Missense 14/23 -
13-32936794-T-C BRCA2 c.7940T>C p.Leu2647Pro Missense 17/27 -
13-32914277-A-G BRCA2 c.5785A>G p.Ile1929Val Missense 11/27 -
17-41243050-C-T BRCA1 c.4097-1G>A - IntronicSNV - 10/22
17-41244000-T-C BRCA1 c.3548A>G p.Lys1183Arg Missense 10/23 -
13-32890650-G-A BRCA2 c.53G>A p.Arg18His Missense 2/27 -
13-32910456-C-G BRCA2 c.1964C>G p.Pro655Arg Missense 11/27 -
13-32929140-C-A BRCA2 c.7150C>A p.Gln2384Lys Missense 14/27 -
17-41209094-C-T BRCA1 c.5252G>A p.Arg1751Gln Missense 19/23 -
17-41256279-C-G BRCA1 c.302-1G>C - IntronicSNV - 5/22
17-41215977-T-A BRCA1 c.5075-9A>T - IntronicSNV - 16/22
13-32953538-G-A BRCA2 c.8839G>A p.Glu2947Lys Missense 22/27 -
17-41244964-T-C BRCA1 c.2584A>G p.Lys862Glu Missense 10/23 -
13-32953653-G-T BRCA2 c.8953+1G>T - IntronicSNV - 22/26
17-41226488-C-A BRCA1 c.4535G>T p.Ser1512Ile Missense 14/23 -
17-41219645-G-A BRCA1 c.5054C>T p.Thr1685Ile Missense 16/23 -
17-41228587-T-G BRCA1 c.4402A>C p.Asn1468His Missense 13/23 -
13-32914830-A-G BRCA2 c.6338A>G p.Asn2113Ser Missense 11/27 -
17-41223094-T-C BRCA1 c.4837A>G p.Ser1613Gly Missense 15/23 -
13-32907277-T-G BRCA2 c.1662T>G p.Cys554Trp Missense 10/27 -
17-41246481-T-C BRCA1 c.1067A>G p.Gln356Arg Missense 10/23 -
13-32950836-C-T BRCA2 c.8662C>T p.Arg2888Cys Missense 21/27 -
17-41243835-G-A BRCA1 c.3713C>T p.Pro1238Leu Missense 10/23 -
13-32912679-A-G BRCA2 c.4187A>G p.Gln1396Arg Missense 11/27 -
17-41215385-T-C BRCA1 c.5158A>G p.Thr1720Ala Missense 18/23 -
13-32936732-G-C BRCA2 c.7878G>C p.Trp2626Cys Missense 17/27 -
13-32971125-T-C BRCA2 c.9592T>C p.Cys3198Arg Missense 26/27 -
17-41256210-T-C BRCA1 c.370A>G p.Ile124Val Missense 6/23 -
13-32906766-C-T BRCA2 c.1151C>T p.Ser384Phe Missense 10/27 -
17-41219646-T-C BRCA1 c.5053A>G p.Thr1685Ala Missense 16/23 -
13-32893313-A-C BRCA2 c.167A>C p.Asn56Thr Missense 3/27 -
13-32911796-A-T BRCA2 c.3304A>T p.Asn1102Tyr Missense 11/27 -
17-41222946-A-G BRCA1 c.4985T>C p.Phe1662Ser Missense 15/23 -
13-32911278-T-C BRCA2 c.2786T>C p.Leu929Ser Missense 11/27 -
17-41234420-C-T BRCA1 c.4357+1G>A - IntronicSNV - 12/22
13-32912408-G-A BRCA2 c.3916G>A p.Val1306Ile Missense 11/27 -
17-41243509-T-C BRCA1 c.4039A>G p.Arg1347Gly Missense 10/23 -
13-32930673-C-T BRCA2 c.7544C>T p.Thr2515Ile Missense 15/27 -
13-32907419-G-A BRCA2 c.1804G>A p.Gly602Arg Missense 10/27 -
17-41245683-G-A BRCA1 c.1865C>T p.Ala622Val Missense 10/23 -
13-32937402-T-C BRCA2 c.8063T>C p.Leu2688Pro Missense 18/27 -
17-41234451-G-C BRCA1 c.4327C>G p.Arg1443Gly Missense 12/23 -
13-32937526-G-T BRCA2 c.8187G>T p.Lys2729Asn Missense 18/27 -
13-32954261-G-A BRCA2 c.9235G>A p.Val3079Ile Missense 24/27 -
13-32913947-C-T BRCA2 c.5455C>T p.Pro1819Ser Missense 11/27 -
13-32930551-T-G BRCA2 c.7436-14T>G - IntronicSNV - 14/26
13-32915313-G-T BRCA2 c.6821G>T p.Gly2274Val Missense 11/27 -
17-41209134-C-T BRCA1 c.5212G>A p.Gly1738Arg Missense 19/23 -
17-41222976-A-G BRCA1 c.4955T>C p.Met1652Thr Missense 15/23 -
17-41245471-C-T BRCA1 c.2077G>A p.Asp693Asn Missense 10/23 -
17-41244982-A-G BRCA1 c.2566T>C p.Tyr856His Missense 10/23 -
13-32937488-G-T BRCA2 c.8149G>T p.Ala2717Ser Missense 18/27 -
17-41256184-G-T BRCA1 c.396C>A p.Asn132Lys Missense 6/23 -
17-41244252-G-A BRCA1 c.3296C>T p.Pro1099Leu Missense 10/23 -
13-32912546-G-T BRCA2 c.4054G>T p.Asp1352Tyr Missense 11/27 -
13-32936830-G-A BRCA2 c.7976G>A p.Arg2659Lys Missense 17/27 -
13-32907075-C-A BRCA2 c.1460C>A p.Ala487Glu Missense 10/27 -
17-41245023-T-C BRCA1 c.2525A>G p.Glu842Gly Missense 10/23 -
13-32954050-G-C BRCA2 c.9117G>C p.Pro3039Pro Synonymous 23/27 -
13-32954050-G-A BRCA2 c.9117G>A p.Pro3039Pro Synonymous 23/27 -
13-32906729-A-C BRCA2 c.1114A>C p.Asn372His Missense 10/27 -
13-32937396-T-C BRCA2 c.8057T>C p.Leu2686Pro Missense 18/27 -
17-41203121-A-G BRCA1 c.5291T>C p.Leu1764Pro Missense 20/23 -
13-32907165-A-G BRCA2 c.1550A>G p.Asn517Ser Missense 10/27 -
17-41228505-C-A BRCA1 c.4484G>T p.Arg1495Met Missense 13/23 -
13-32954050-G-T BRCA2 c.9117G>T p.Pro3039Pro Synonymous 23/27 -
17-41219624-C-T BRCA1 c.5074+1G>A - IntronicSNV - 16/22
17-41246061-C-T BRCA1 c.1487G>A p.Arg496His Missense 10/23 -
13-32914635-A-T BRCA2 c.6143A>T p.Asn2048Ile Missense 11/27 -
13-32929405-A-C BRCA2 c.7415A>C p.Lys2472Thr Missense 14/27 -
13-32907153-A-G BRCA2 c.1538A>G p.Lys513Arg Missense 10/27 -
13-32953616-C-T BRCA2 c.8917C>T p.Arg2973Cys Missense 22/27 -
17-41244418-T-C BRCA1 c.3130A>G p.Ile1044Val Missense 10/23 -
13-32911172-G-A BRCA2 c.2680G>A p.Val894Ile Missense 11/27 -
17-41223262-G-A BRCA1 c.4676-7C>T - IntronicSNV - 14/22
17-41244221-T-G BRCA1 c.3327A>C p.Lys1109Asn Missense 10/23 -
17-41219655-C-T BRCA1 c.5044G>A p.Glu1682Lys Missense 16/23 -
13-32954181-G-A BRCA2 c.9155G>A p.Arg3052Gln Missense 24/27 -
13-32900377-A-G BRCA2 c.476-2A>G - IntronicSNV - 5/26
13-32953549-G-T BRCA2 c.8850G>T p.Lys2950Asn Missense 22/27 -
17-41245900-T-G BRCA1 c.1648A>C p.Asn550His Missense 10/23 -
13-32936680-G-A BRCA2 c.7826G>A p.Gly2609Asp Missense 17/27 -
17-41276061-A-G BRCA1 c.53T>C p.Met18Thr Missense 2/23 -
13-32900405-C-A BRCA2 c.502C>A p.Pro168Thr Missense 6/27 -
17-41258470-T-C BRCA1 c.212+3A>G - IntronicSNV - 4/22
17-41267767-G-T BRCA1 c.110C>A p.Thr37Lys Missense 3/23 -
17-41243060-A-G BRCA1 c.4097-11T>C - IntronicSNV - 10/22
13-32914202-C-G BRCA2 c.5710C>G p.Leu1904Val Missense 11/27 -
17-41267747-A-T BRCA1 c.130T>A p.Cys44Ser Missense 3/23 -
17-41219639-AACA-A BRCA1 c.5062_5064delGTT p.Val1688delVal InFrameDeletion 16/23 -
17-41199716-A-T BRCA1 c.5411T>A p.Val1804Asp Missense 22/23 -
13-32936812-T-C BRCA2 c.7958T>C p.Leu2653Pro Missense 17/27 -
17-41223091-G-A BRCA1 c.4840C>T p.Pro1614Ser Missense 15/23 -
13-32931878-G-A BRCA2 c.7618-1G>A - IntronicSNV - 15/26
13-32950791-C-G BRCA2 c.8633-16C>G - IntronicSNV - 20/26
13-32953592-G-C BRCA2 c.8893G>C p.Asp2965His Missense 22/27 -
13-32937366-T-C BRCA2 c.8027T>C p.Met2676Thr Missense 18/27 -
17-41203088-A-C BRCA1 c.5324T>G p.Met1775Arg Missense 20/23 -
17-41226347-C-T BRCA1 c.4675+1G>A - IntronicSNV - 14/22
17-41245759-C-T BRCA1 c.1789G>A p.Glu597Lys Missense 10/23 -
13-32937507-A-G BRCA2 c.8168A>G p.Asp2723Gly Missense 18/27 -
17-41244775-T-G BRCA1 c.2773A>C p.Ile925Leu Missense 10/23 -
13-32912586-G-A BRCA2 c.4094G>A p.Cys1365Tyr Missense 11/27 -
13-32915240-A-G BRCA2 c.6748A>G p.Thr2250Ala Missense 11/27 -
13-32918788-A-T BRCA2 c.6935A>T p.Asp2312Val Missense 12/27 -
13-32968854-C-G BRCA2 c.9285C>G p.Asp3095Glu Missense 25/27 -
17-41244465-C-T BRCA1 c.3083G>A p.Arg1028His Missense 10/23 -
17-41215920-G-T BRCA1 c.5123C>A p.Ala1708Glu Missense 17/23 -
17-41243948-C-G BRCA1 c.3600G>C p.Gln1200His Missense 10/23 -
17-41215948-G-A BRCA1 c.5095C>T p.Arg1699Trp Missense 17/23 -
17-41245624-C-G BRCA1 c.1924G>C p.Asp642His Missense 10/23 -
17-41242951-C-G BRCA1 c.4185+10G>C - IntronicSNV - 11/22
13-32929047-G-C BRCA2 c.7057G>C p.Gly2353Arg Missense 14/27 -
13-32912073-G-A BRCA2 c.3581G>A p.Gly1194Asp Missense 11/27 -
13-32945130-G-A BRCA2 c.8525G>A p.Arg2842His Missense 20/27 -
17-41249283-C-T BRCA1 c.571G>A p.Val191Ile Missense 8/23 -
13-32893271-A-G BRCA2 c.125A>G p.Tyr42Cys Missense 3/27 -
13-32950897-T-G BRCA2 c.8723T>G p.Val2908Gly Missense 21/27 -
13-32907000-A-G BRCA2 c.1385A>G p.Glu462Gly Missense 10/27 -
13-32929297-A-T BRCA2 c.7307A>T p.Asn2436Ile Missense 14/27 -
13-32912538-T-C BRCA2 c.4046T>C p.Ile1349Thr Missense 11/27 -
13-32913690-C-T BRCA2 c.5198C>T p.Ser1733Phe Missense 11/27 -
13-32918675-T-A BRCA2 c.6842-20T>A - IntronicSNV - 11/26
17-41223048-A-G BRCA1 c.4883T>C p.Met1628Thr Missense 15/23 -
17-41215391-C-G BRCA1 c.5153-1G>C - IntronicSNV - 17/22
17-41219633-A-C BRCA1 c.5066T>G p.Met1689Arg Missense 16/23 -
13-32907377-A-G BRCA2 c.1762A>G p.Asn588Asp Missense 10/27 -
13-32913062-T-G BRCA2 c.4570T>G p.Phe1524Val Missense 11/27 -
17-41215926-C-T BRCA1 c.5117G>A p.Gly1706Glu Missense 17/23 -
17-41215900-T-G BRCA1 c.5143A>C p.Ser1715Arg Missense 17/23 -
13-32912750-G-T BRCA2 c.4258G>T p.Asp1420Tyr Missense 11/27 -
13-32944567-G-A BRCA2 c.8360G>A p.Arg2787His Missense 19/27 -
13-32907359-A-C BRCA2 c.1744A>C p.Thr582Pro Missense 10/27 -
13-32893369-G-C BRCA2 c.223G>C p.Ala75Pro Missense 3/27 -
13-32914244-C-T BRCA2 c.5752C>T p.His1918Tyr Missense 11/27 -
17-41276049-A-G BRCA1 c.65T>C p.Leu22Ser Missense 2/23 -
13-32929178-G-T BRCA2 c.7188G>T p.Leu2396Phe Missense 14/27 -
13-32968825-G-C BRCA2 c.9257-1G>C - IntronicSNV - 24/26
13-32971042-A-G BRCA2 c.9509A>G p.Asp3170Gly Missense 26/27 -
13-32921034-G-C BRCA2 c.7007+1G>C - IntronicSNV - 13/26
13-32912553-C-T BRCA2 c.4061C>T p.Thr1354Met Missense 11/27 -
17-41246709-G-C BRCA1 c.839C>G p.Ala280Gly Missense 10/23 -
17-41197711-G-C BRCA1 c.5576C>G p.Pro1859Arg Missense 23/23 -
13-32913077-G-A BRCA2 c.4585G>A p.Gly1529Arg Missense 11/27 -
17-41256878-C-T BRCA1 c.301+7G>A - IntronicSNV - 5/22
17-41245090-T-C BRCA1 c.2458A>G p.Lys820Glu Missense 10/23 -
17-41245090-T-G BRCA1 c.2458A>C p.Lys820Gln Missense 10/23 -
17-41246443-C-T BRCA1 c.1105G>A p.Asp369Asn Missense 10/23 -
17-41246812-A-C BRCA1 c.736T>G p.Leu246Val Missense 10/23 -
17-41249257-T-C BRCA1 c.593+4A>G - IntronicSNV - 8/22
17-41245071-G-T BRCA1 c.2477C>A p.Thr826Lys Missense 10/23 -
17-41244435-T-C BRCA1 c.3113A>G p.Glu1038Gly Missense 10/23 -
17-41226387-C-A BRCA1 c.4636G>T p.Asp1546Tyr Missense 14/23 -
17-41245546-G-A BRCA1 c.2002C>T p.Leu668Phe Missense 10/23 -
17-41234574-G-A BRCA1 c.4204C>T p.His1402Tyr Missense 12/23 -
17-41246037-C-T BRCA1 c.1511G>A p.Arg504His Missense 10/23 -
17-41245120-T-A BRCA1 c.2428A>T p.Asn810Tyr Missense 10/23 -
17-41258486-C-A BRCA1 c.199G>T p.Asp67Tyr Missense 4/23 -
13-32914592-C-T BRCA2 c.6100C>T p.Arg2034Cys Missense 11/27 -
17-41223240-A-G BRCA1 c.4691T>C p.Leu1564Pro Missense 15/23 -
17-41243908-C-T BRCA1 c.3640G>A p.Glu1214Lys Missense 10/23 -
13-32907055-C-A BRCA2 c.1440C>A p.Cys480* Nonsense 10/27 -
13-32929042-C-G BRCA2 c.7052C>G p.Ala2351Gly Missense 14/27 -
17-41244789-A-G BRCA1 c.2759T>C p.Val920Ala Missense 10/23 -
13-32910908-G-C BRCA2 c.2416G>C p.Asp806His Missense 11/27 -
13-32945172-A-C BRCA2 c.8567A>C p.Glu2856Ala Missense 20/27 -
13-32937506-G-C BRCA2 c.8167G>C p.Asp2723His Missense 18/27 -
17-41245341-T-G BRCA1 c.2207A>C p.Glu736Ala Missense 10/23 -
17-41199655-C-G BRCA1 c.5467+5G>C - IntronicSNV - 22/22
13-32912060-C-T BRCA2 c.3568C>T p.Arg1190Trp Missense 11/27 -
13-32913804-G-A BRCA2 c.5312G>A p.Gly1771Asp Missense 11/27 -
17-41245136-C-G BRCA1 c.2412G>C p.Gln804His Missense 10/23 -
17-41267746-C-T BRCA1 c.131G>A p.Cys44Tyr Missense 3/23 -
17-41222975-C-T BRCA1 c.4956G>A p.Met1652Ile Missense 15/23 -
13-32944695-G-A BRCA2 c.8487+1G>A - IntronicSNV - 19/26
17-41243725-T-C BRCA1 c.3823A>G p.Ile1275Val Missense 10/23 -
17-41244879-C-A BRCA1 c.2669G>T p.Gly890Val Missense 10/23 -
17-41243502-G-A BRCA1 c.4046C>T p.Thr1349Met Missense 10/23 -
17-41245027-G-A BRCA1 c.2521C>T p.Arg841Trp Missense 10/23 -
17-41244246-C-T BRCA1 c.3302G>A p.Ser1101Asn Missense 10/23 -
17-41244130-T-C BRCA1 c.3418A>G p.Ser1140Gly Missense 10/23 -
17-41209164-C-T BRCA1 c.5194-12G>A - IntronicSNV - 18/22
17-41246062-G-A BRCA1 c.1486C>T p.Arg496Cys Missense 10/23 -
13-32900420-G-T BRCA2 c.516+1G>T - IntronicSNV - 6/26
13-32906571-A-C BRCA2 c.956A>C p.Asn319Thr Missense 10/27 -
13-32937504-C-G BRCA2 c.8165C>G p.Thr2722Arg Missense 18/27 -
17-41246130-T-C BRCA1 c.1418A>G p.Asn473Ser Missense 10/23 -
17-41215926-C-G BRCA1 c.5117G>C p.Gly1706Ala Missense 17/23 -
17-41243467-T-G BRCA1 c.4081A>C p.Met1361Leu Missense 10/23 -
17-41244526-T-C BRCA1 c.3022A>G p.Met1008Val Missense 10/23 -
13-32906738-C-T BRCA2 c.1123C>T p.Pro375Ser Missense 10/27 -
13-32954180-C-T BRCA2 c.9154C>T p.Arg3052Trp Missense 24/27 -
13-32969079-A-C BRCA2 c.9501+9A>C - IntronicSNV - 25/26
17-41243940-C-T BRCA1 c.3608G>A p.Arg1203Gln Missense 10/23 -
13-32937582-G-A BRCA2 c.8243G>A p.Gly2748Asp Missense 18/27 -
13-32918706-A-G BRCA2 c.6853A>G p.Ile2285Val Missense 12/27 -
7-55224333-C-A EGFR c.1114C>A p.Leu372Met Missense 9/28 -
17-41256266-T-C BRCA1 c.314A>G p.Tyr105Cys Missense 6/23 -
17-41197774-A-T BRCA1 c.5513T>A p.Val1838Glu Missense 23/23 -
17-41203085-G-T BRCA1 c.5327C>A p.Pro1776His Missense 20/23 -
17-41244429-C-T BRCA1 c.3119G>A p.Ser1040Asn Missense 10/23 -
13-32911452-A-T BRCA2 c.2960A>T p.Asn987Ile Missense 11/27 -
17-41203088-A-T BRCA1 c.5324T>A p.Met1775Lys Missense 20/23 -
13-32913770-T-G BRCA2 c.5278T>G p.Ser1760Ala Missense 11/27 -
13-32907435-A-C BRCA2 c.1820A>C p.Lys607Thr Missense 10/27 -
17-41201219-G-A BRCA1 c.5333-8C>T - IntronicSNV - 20/22
17-41251803-T-C BRCA1 c.536A>G p.Tyr179Cys Missense 7/23 -
17-41246290-C-A BRCA1 c.1258G>T p.Asp420Tyr Missense 10/23 -
13-32972279-C-T BRCA2 c.9649-20C>T - IntronicSNV - 26/26
17-41223021-G-A BRCA1 c.4910C>T p.Pro1637Leu Missense 15/23 -
17-41243809-C-T BRCA1 c.3739G>A p.Val1247Ile Missense 10/23 -
17-41201185-A-T BRCA1 c.5359T>A p.Cys1787Ser Missense 21/23 -
13-32911295-G-A BRCA2 c.2803G>A p.Asp935Asn Missense 11/27 -
13-32968844-A-G BRCA2 c.9275A>G p.Tyr3092Cys Missense 25/27 -
13-32936733-A-T BRCA2 c.7879A>T p.Ile2627Phe Missense 17/27 -
13-32907504-C-T BRCA2 c.1889C>T p.Thr630Ile Missense 10/27 -
17-41209068-C-T BRCA1 c.5277+1G>A - IntronicSNV - 19/22
13-32968940-A-T BRCA2 c.9371A>T p.Asn3124Ile Missense 25/27 -
17-41244524-C-T BRCA1 c.3024G>A p.Met1008Ile Missense 10/23 -
17-41267809-G-C BRCA1 c.81-13C>G - IntronicSNV - 2/22
17-41243751-C-G BRCA1 c.3797G>C p.Ser1266Thr Missense 10/23 -
17-41246441-CATC-C BRCA1 c.1106_1108delATG p.Asp369delAsp InFrameDeletion 10/23 -
13-32954213-C-T BRCA2 c.9187C>T p.Pro3063Ser Missense 24/27 -
13-32912174-A-G BRCA2 c.3682A>G p.Asn1228Asp Missense 11/27 -
13-32912007-C-T BRCA2 c.3515C>T p.Ser1172Leu Missense 11/27 -
17-41245381-T-C BRCA1 c.2167A>G p.Asn723Asp Missense 10/23 -
17-41244952-G-A BRCA1 c.2596C>T p.Arg866Cys Missense 10/23 -
13-32912285-T-A BRCA2 c.3793T>A p.Cys1265Ser Missense 11/27 -
17-41201181-C-A BRCA1 c.5363G>T p.Gly1788Val Missense 21/23 -
17-41244085-C-G BRCA1 c.3463G>C p.Asp1155His Missense 10/23 -
17-41219732-T-C BRCA1 c.4987-20A>G - IntronicSNV - 15/22
13-32937647-G-A BRCA2 c.8308G>A p.Ala2770Thr Missense 18/27 -
17-41249323-C-A BRCA1 c.548-17G>T - IntronicSNV - 7/22
17-41251876-G-C BRCA1 c.463C>G p.Gln155Glu Missense 7/23 -
17-41215403-T-C BRCA1 c.5153-13A>G - IntronicSNV - 17/22
17-41203115-A-C BRCA1 c.5297T>G p.Ile1766Ser Missense 20/23 -
17-41246092-A-G BRCA1 c.1456T>C p.Phe486Leu Missense 10/23 -
13-32953604-G-A BRCA2 c.8905G>A p.Val2969Met Missense 22/27 -
13-32912793-A-T BRCA2 c.4301A>T p.Lys1434Ile Missense 11/27 -
17-41267762-A-G BRCA1 c.115T>C p.Cys39Arg Missense 3/23 -
13-32937333-A-G BRCA2 c.7994A>G p.Asp2665Gly Missense 18/27 -
17-41215947-C-T BRCA1 c.5096G>A p.Arg1699Gln Missense 17/23 -
13-32932027-C-A BRCA2 c.7766C>A p.Pro2589His Missense 16/27 -
13-32945178-A-G BRCA2 c.8573A>G p.Gln2858Arg Missense 20/27 -
13-32968861-T-C BRCA2 c.9292T>C p.Tyr3098His Missense 25/27 -
17-41256155-G-T BRCA1 c.425C>A p.Pro142His Missense 6/23 -
17-41246547-G-T BRCA1 c.1001C>A p.Pro334His Missense 10/23 -
17-41246547-G-A BRCA1 c.1001C>T p.Pro334Leu Missense 10/23 -
17-41267807-TA-T BRCA1 c.81-11delT - IntronicDeletion - 2/22
13-32913562-A-C BRCA2 c.5070A>C p.Lys1690Asn Missense 11/27 -