rs397507277

plus

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

Make rs397507277(A;A)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32333290

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs397507277
dbSNP (classic)	rs397507277
ClinGen	rs397507277
ebi	rs397507277
HLI	rs397507277
Exac	rs397507277
Gnomad	rs397507277
Varsome	rs397507277
LitVar	rs397507277
Map	rs397507277
PheGenI	rs397507277
Biobank	rs397507277
1000 genomes	rs397507277
hgdp	rs397507277
ensembl	rs397507277
geneview	rs397507277
scholar	rs397507277
google	rs397507277
pharmgkb	rs397507277
gwascentral	rs397507277
openSNP	rs397507277
23andMe	rs397507277
SNPshot	rs397507277
SNPdbe	rs397507277
MSV3d	rs397507277
GWAS Ctlg	rs397507277

Status

Merged into rs80359306

Max Magnitude

6

rs397507277, also known as c.1813dupA, c.1812_1813insA and p.Ile605Asnfs, is a rare variant in the BRCA2 gene.

This variant is considered a pathogenic breast cancer mutation that is also a founder mutation in some populations (such as Germany). It is also designated as pathogenic in ClinVar.

ClinVar
Risk	rs397507277(A;A)
Alt	rs397507277(A;A)
Reference	Rs397507277(;)
Significance	Pathogenic
Disease	Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided
Variation	info
Gene	BRCA2
CLNDBN	Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided
Reversed	0
HGVS	NC_000013.10:g.32907428dupA
CLNSRC	Breast Cancer Information Core (BRCA2)
CLNACC	RCV000031343.13, RCV000043897.6, RCV000131453.3, RCV000160269.2,