rs397507761

plus

Geno	Mag	Summary
(-;TATG)	6	BRCA2 variant considered pathogenic for breast cancer
(TATG;TATG)	0	common in clinvar
(TGTA;TGTA)	0	common in clinvar

Make rs397507761(-;-)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32339501

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs397507761
dbSNP (classic)	rs397507761
ClinGen	rs397507761
ebi	rs397507761
HLI	rs397507761
Exac	rs397507761
Gnomad	rs397507761
Varsome	rs397507761
LitVar	rs397507761
Map	rs397507761
PheGenI	rs397507761
Biobank	rs397507761
1000 genomes	rs397507761
hgdp	rs397507761
ensembl	rs397507761
geneview	rs397507761
scholar	rs397507761
google	rs397507761
pharmgkb	rs397507761
gwascentral	rs397507761
openSNP	rs397507761
23andMe	rs397507761
SNPshot	rs397507761
SNPdbe	rs397507761
MSV3d	rs397507761
GWAS Ctlg	rs397507761

Status

Merged into rs276174854

Max Magnitude

6

rs397507761, also known as c.5146_5149delTATG and p.Tyr1716Lysfs, represents a rare variant in the BRCA2 gene.

Multiple ClinVar submitters consider the minor allele of this SNP pathogenic for breast cancer, and it is also a founder mutation in some populations (for example, Spain).

ClinVar
Risk
Alt
Reference	Rs397507761(TGTA;TGTA)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation	info
Gene	BRCA2
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome
Reversed	0
HGVS	NC_000013.10:g.32913638_32913641delTATG
CLNSRC	Breast Cancer Information Core (BRCA2)
CLNACC	RCV000044567.3, RCV000113387.3, RCV000214399.1,