rs80359310

plus

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

Make rs80359310(A;A)

Reference

GRCh38 38.1/142

Chromosome

13

Position

32333292

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359310
dbSNP (classic)	rs80359310
ClinGen	rs80359310
ebi	rs80359310
HLI	rs80359310
Exac	rs80359310
Gnomad	rs80359310
Varsome	rs80359310
LitVar	rs80359310
Map	rs80359310
PheGenI	rs80359310
Biobank	rs80359310
1000 genomes	rs80359310
hgdp	rs80359310
ensembl	rs80359310
geneview	rs80359310
scholar	rs80359310
google	rs80359310
pharmgkb	rs80359310
gwascentral	rs80359310
openSNP	rs80359310
23andMe	rs80359310
SNPshot	rs80359310
SNPdbe	rs80359310
MSV3d	rs80359310
GWAS Ctlg	rs80359310

Merged from

Rs397507609

Max Magnitude

6

rs80359310, also known as 2042insA, c.1814_1815insA and p.Ile605?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80359310(A;A)
Alt	rs80359310(A;A)
Reference	Rs80359310(-;-)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer
Variation	info
Gene	BRCA2
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 2
Reversed	0
HGVS	NC_000013.10:g.32907430dupA
CLNSRC	Breast Cancer Information Core (BRCA2)
CLNACC	RCV000043898.2, RCV000112980.3,