rs80359485

plus

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

Make rs80359485(-;-)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32339485

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359485
dbSNP (classic)	rs80359485
ClinGen	rs80359485
ebi	rs80359485
HLI	rs80359485
Exac	rs80359485
Gnomad	rs80359485
Varsome	rs80359485
LitVar	rs80359485
Map	rs80359485
PheGenI	rs80359485
Biobank	rs80359485
1000 genomes	rs80359485
hgdp	rs80359485
ensembl	rs80359485
geneview	rs80359485
scholar	rs80359485
google	rs80359485
pharmgkb	rs80359485
gwascentral	rs80359485
openSNP	rs80359485
23andMe	rs80359485
SNPshot	rs80359485
SNPdbe	rs80359485
MSV3d	rs80359485
GWAS Ctlg	rs80359485

Status

Merged into rs80359484

Max Magnitude

6

rs80359485, also known as 5358del4, c.5130_5133delTGTA and p.Tyr1710_Val1711?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk
Alt
Reference	Rs80359485(TATG;TATG)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome Breast-ovarian cancer not provided
Variation	info
Gene	BRCA2
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial 1 not provided
Reversed	0
HGVS	NC_000013.10:g.32913622_32913625delTGTA
CLNSRC	Breast Cancer Information Core (BRCA2)
CLNACC	RCV000044563.2, RCV000077345.6, RCV000131075.3, RCV000210164.1, RCV000215028.2,