rs80359494

plus

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

Make rs80359494(-;-)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32339572

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359494
dbSNP (classic)	rs80359494
ClinGen	rs80359494
ebi	rs80359494
HLI	rs80359494
Exac	rs80359494
Gnomad	rs80359494
Varsome	rs80359494
LitVar	rs80359494
Map	rs80359494
PheGenI	rs80359494
Biobank	rs80359494
1000 genomes	rs80359494
hgdp	rs80359494
ensembl	rs80359494
geneview	rs80359494
scholar	rs80359494
google	rs80359494
pharmgkb	rs80359494
gwascentral	rs80359494
openSNP	rs80359494
23andMe	rs80359494
SNPshot	rs80359494
SNPdbe	rs80359494
MSV3d	rs80359494
GWAS Ctlg	rs80359494

Max Magnitude

6

rs80359494, also known as 5445del4, c.5217_5220delTTTA and p.Tyr1739_Leu1740?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80359494(-;-)
Alt	rs80359494(-;-)
Reference	Rs80359494(TTAT;TTAT)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation	info
Gene	BRCA2
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome
Reversed	0
HGVS	NC_000013.10:g.32913709_32913712delTTTA
CLNSRC	Breast Cancer Information Core (BRCA2)
CLNACC	RCV000044611.3, RCV000113400.3, RCV000219606.1,