rs80359305

plus

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

Make rs80359305(-;-)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32333251

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359305
dbSNP (classic)	rs80359305
ClinGen	rs80359305
ebi	rs80359305
HLI	rs80359305
Exac	rs80359305
Gnomad	rs80359305
Varsome	rs80359305
LitVar	rs80359305
Map	rs80359305
PheGenI	rs80359305
Biobank	rs80359305
1000 genomes	rs80359305
hgdp	rs80359305
ensembl	rs80359305
geneview	rs80359305
scholar	rs80359305
google	rs80359305
pharmgkb	rs80359305
gwascentral	rs80359305
openSNP	rs80359305
23andMe	rs80359305
SNPshot	rs80359305
SNPdbe	rs80359305
MSV3d	rs80359305
GWAS Ctlg	rs80359305

Status

Merged into rs80359304

Max Magnitude

6

rs80359305, also known as 2001del4, c.1773_1776delTTAT and p.Ile591_Tyr592?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk
Alt
Reference	Rs80359305(TTTA;TTTA)
Significance	Pathogenic
Disease	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome
Variation	info
Gene	BRCA2
CLNDBN	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 Familial cancer of breast Hereditary cancer-predisposing syndrome
Reversed	0
HGVS	NC_000013.10:g.32907388_32907391delTTAT
CLNSRC	Breast Cancer Information Core (BRCA2)
CLNACC	RCV000043880.4, RCV000112966.3, RCV000160268.1, RCV000213388.1,