ClinVar Miner

List of variants in gene BRCA2 reported as likely pathogenic by Department of Pathology and Laboratory Medicine, Sinai Health System

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 24
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.7878G>C (p.Trp2626Cys) rs80359013 0.00001
NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu) rs80359035 0.00001
NM_000059.4(BRCA2):c.8243G>A (p.Gly2748Asp) rs80359071 0.00001
NM_000059.3(BRCA2):c.68_316del249 (p.Asp23_Leu105del)
NM_000059.4(BRCA2):c.1368_1369dup (p.Lys457fs) rs397507583
NM_000059.4(BRCA2):c.2398_2423dup (p.Leu809fs) rs1555282658
NM_000059.4(BRCA2):c.2593G>T (p.Glu865Ter) rs587782014
NM_000059.4(BRCA2):c.2748del (p.Cys916fs) rs886040443
NM_000059.4(BRCA2):c.2786del (p.Leu929fs) rs80359347
NM_000059.4(BRCA2):c.2870del (p.Asn957fs) rs397507645
NM_000059.4(BRCA2):c.3328G>T (p.Glu1110Ter) rs1555283173
NM_000059.4(BRCA2):c.3339del (p.Glu1113fs) rs2137495606
NM_000059.4(BRCA2):c.469_470del (p.Lys157fs) rs397507739
NM_000059.4(BRCA2):c.517G>C (p.Gly173Arg) rs397507768
NM_000059.4(BRCA2):c.5862_5863del (p.Ser1955fs) rs786202700
NM_000059.4(BRCA2):c.67+3A>G rs1593880835
NM_000059.4(BRCA2):c.6819delinsGT (p.Gly2274fs) rs2137530913
NM_000059.4(BRCA2):c.7007G>T (p.Arg2336Leu) rs28897743
NM_000059.4(BRCA2):c.7008-1_7435+372del rs2137555065
NM_000059.4(BRCA2):c.7977-2A>G rs276174899
NM_000059.4(BRCA2):c.8470A>T (p.Arg2824Ter) rs886040778
NM_000059.4(BRCA2):c.8487+3A>G rs81002806
NM_000059.4(BRCA2):c.8924del (p.Val2975fs) rs397508020
NM_000059.4(BRCA2):c.9004G>A (p.Glu3002Lys) rs80359152

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.