rs80359314

plus

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

Make rs80359314(A;A)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32333366

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359314
dbSNP (classic)	rs80359314
ClinGen	rs80359314
ebi	rs80359314
HLI	rs80359314
Exac	rs80359314
Gnomad	rs80359314
Varsome	rs80359314
LitVar	rs80359314
Map	rs80359314
PheGenI	rs80359314
Biobank	rs80359314
1000 genomes	rs80359314
hgdp	rs80359314
ensembl	rs80359314
geneview	rs80359314
scholar	rs80359314
google	rs80359314
pharmgkb	rs80359314
gwascentral	rs80359314
openSNP	rs80359314
23andMe	rs80359314
SNPshot	rs80359314
SNPdbe	rs80359314
MSV3d	rs80359314
GWAS Ctlg	rs80359314

Max Magnitude

6

rs80359314, also known as 2116insA, c.1888_1889insA, c.1888_1889insAA and p.Thr630?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80359314(A;A) rs80359314(AA;AA)
Alt	rs80359314(A;A) rs80359314(AA;AA)
Reference	Rs80359314(-;-)
Significance	Pathogenic
Disease	Breast-ovarian cancer Familial cancer of breast
Variation	info
Gene	BRCA2
CLNDBN	Breast-ovarian cancer, familial 2 Familial cancer of breast
Reversed	0
HGVS	NC_000013.10:g.32907503_32907504insAA; NC_000013.10:g.32907503dupA
CLNSRC	Breast Cancer Information Core (BRCA2)
CLNACC	RCV000257344.2, RCV000043916.2, RCV000077671.4,