rs80359450

plus

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

Make rs80359450(-;-)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32338811

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359450
dbSNP (classic)	rs80359450
ClinGen	rs80359450
ebi	rs80359450
HLI	rs80359450
Exac	rs80359450
Gnomad	rs80359450
Varsome	rs80359450
LitVar	rs80359450
Map	rs80359450
PheGenI	rs80359450
Biobank	rs80359450
1000 genomes	rs80359450
hgdp	rs80359450
ensembl	rs80359450
geneview	rs80359450
scholar	rs80359450
google	rs80359450
pharmgkb	rs80359450
gwascentral	rs80359450
openSNP	rs80359450
23andMe	rs80359450
SNPshot	rs80359450
SNPdbe	rs80359450
MSV3d	rs80359450
GWAS Ctlg	rs80359450

Status

Merged into rs80359449

Max Magnitude

6

rs80359450, also known as 4684del4, c.4456_4459delGTTA and p.Val1486_Lys1487?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk
Alt
Reference	Rs80359450(TAGT;TAGT)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer not provided Hereditary cancer-predisposing syndrome
Variation	info
Gene	BRCA2
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 2 not provided Hereditary cancer-predisposing syndrome
Reversed	0
HGVS	NC_000013.10:g.32912948_32912951delGTTA
CLNSRC	Breast Cancer Information Core (BRCA2)
CLNACC	RCV000044417.4, RCV000083106.6, RCV000212235.2, RCV000222405.1,