rs80359470

plus

Geno	Mag	Summary
(-;A)	6	BRCA2 variant considered pathogenic for breast cancer
(-;AA)	6	Likely miscall in Ancestry v2c data; otherwise, BRCA2 variant considered pathogenic for breast cancer
(AA;AA)	0	common in clinvar

Make rs80359470(-;-)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32339231

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359470
dbSNP (classic)	rs80359470
ClinGen	rs80359470
ebi	rs80359470
HLI	rs80359470
Exac	rs80359470
Gnomad	rs80359470
Varsome	rs80359470
LitVar	rs80359470
Map	rs80359470
PheGenI	rs80359470
Biobank	rs80359470
1000 genomes	rs80359470
hgdp	rs80359470
ensembl	rs80359470
geneview	rs80359470
scholar	rs80359470
google	rs80359470
pharmgkb	rs80359470
gwascentral	rs80359470
openSNP	rs80359470
23andMe	rs80359470
SNPshot	rs80359470
SNPdbe	rs80359470
MSV3d	rs80359470
GWAS Ctlg	rs80359470

Max Magnitude

6

rs80359470, also known as 5104delAA, c.4876_4877delAA and p.Asn1626Serfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80359470(-;-)
Alt	rs80359470(-;-)
Reference	Rs80359470(AA;AA)
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.32913368_32913369delAA
CLNSRC	Breast Cancer Information Core (BRCA2)
CLNACC	RCV000031510.9, RCV000044510.6, RCV000131079.3, RCV000160293.3,