ClinVar Miner

List of variants in gene BRCA2 reported as likely pathogenic by Quest Diagnostics Nichols Institute San Juan Capistrano

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 41
Download table as spreadsheet
HGVS dbSNP
NM_000059.3(BRCA2):c.-39-2A>G rs1555280053
NM_000059.3(BRCA2):c.229A>G (p.Thr77Ala) rs80358500
NM_000059.3(BRCA2):c.2860G>T (p.Glu954Ter) rs1555282911
NM_000059.3(BRCA2):c.316+5G>A rs81002840
NM_000059.3(BRCA2):c.316+5G>C rs81002840
NM_000059.3(BRCA2):c.3174dup (p.Leu1059fs) rs1555283079
NM_000059.3(BRCA2):c.3376G>T (p.Glu1126Ter) rs1555283206
NM_000059.3(BRCA2):c.3723del (p.Phe1241fs) rs886040491
NM_000059.3(BRCA2):c.3883C>T (p.Gln1295Ter) rs879255309
NM_000059.3(BRCA2):c.4037del (p.Thr1346fs) rs1162394508
NM_000059.3(BRCA2):c.425G>T (p.Ser142Ile) rs397507713
NM_000059.3(BRCA2):c.4333_4337del (p.Lys1445fs) rs1566230089
NM_000059.3(BRCA2):c.4376del (p.Asn1459fs) rs1555283752
NM_000059.3(BRCA2):c.4544dup (p.Ile1516fs) rs397507725
NM_000059.3(BRCA2):c.4707C>A (p.Tyr1569Ter) rs878853585
NM_000059.3(BRCA2):c.4749del (p.Ile1583fs) rs1555283928
NM_000059.3(BRCA2):c.476-4_476-1delinsT rs587782880
NM_000059.3(BRCA2):c.6373_6374delinsG (p.Thr2125fs) rs1555284655
NM_000059.3(BRCA2):c.6474dup (p.Gln2159fs) rs1555284710
NM_000059.3(BRCA2):c.6502G>T (p.Gly2168Ter) rs886040660
NM_000059.3(BRCA2):c.67+1G>C rs81002796
NM_000059.3(BRCA2):c.6884_6888del (p.Arg2295fs) rs1566236904
NM_000059.3(BRCA2):c.6980del (p.Ser2326_Leu2327insTer) rs879255306
NM_000059.3(BRCA2):c.7007G>T (p.Arg2336Leu) rs28897743
NM_000059.3(BRCA2):c.7628_7629del (p.Tyr2543fs) rs1566242661
NM_000059.3(BRCA2):c.7868A>G (p.His2623Arg) rs80359012
NM_000059.3(BRCA2):c.7879A>T (p.Ile2627Phe) rs80359014
NM_000059.3(BRCA2):c.7958T>C (p.Leu2653Pro) rs80359022
NM_000059.3(BRCA2):c.7958_7959dup (p.Leu2654fs) rs1566244965
NM_000059.3(BRCA2):c.7977-2A>G rs276174899
NM_000059.3(BRCA2):c.8009C>T (p.Ser2670Leu) rs80359035
NM_000059.3(BRCA2):c.8063T>C (p.Leu2688Pro) rs80359045
NM_000059.3(BRCA2):c.81_83delinsTAAGACT (p.Ser28fs) rs879255300
NM_000059.3(BRCA2):c.8229_8243del (p.Arg2744_Gly2748del) rs80359698
NM_000059.3(BRCA2):c.8562T>G (p.Tyr2854Ter) rs786201333
NM_000059.3(BRCA2):c.8724del (p.Lys2909fs) rs1555288172
NM_000059.3(BRCA2):c.8754+1G>T rs397508006
NM_000059.3(BRCA2):c.8755-1G>C rs81002812
NM_000059.3(BRCA2):c.889G>T (p.Glu297Ter) rs879255298
NM_000059.3(BRCA2):c.9285C>G (p.Asp3095Glu) rs80359198
NM_000059.3(BRCA2):c.9502-2A>C rs81002868

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.