rs80359303

plus

Geno	Mag	Summary
(-;AATAA)	6	BRCA2 variant considered pathogenic for breast cancer
(-;ATAA)	6	BRCA2 variant considered pathogenic for breast cancer
(AAAT;AAAT)	0	common in clinvar
(ATAA;ATAA)	0	common in clinvar

Make rs80359303(-;-)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32333241

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359303
dbSNP (classic)	rs80359303
ClinGen	rs80359303
ebi	rs80359303
HLI	rs80359303
Exac	rs80359303
Gnomad	rs80359303
Varsome	rs80359303
LitVar	rs80359303
Map	rs80359303
PheGenI	rs80359303
Biobank	rs80359303
1000 genomes	rs80359303
hgdp	rs80359303
ensembl	rs80359303
geneview	rs80359303
scholar	rs80359303
google	rs80359303
pharmgkb	rs80359303
gwascentral	rs80359303
openSNP	rs80359303
23andMe	rs80359303
SNPshot	rs80359303
SNPdbe	rs80359303
MSV3d	rs80359303
GWAS Ctlg	rs80359303

Max Magnitude

6

rs80359303, also known as 1991del4, c.1763_1766delATAA and p.Asn588_Lys589?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

This mutation is considered a founder mutation in the Columbian Hispanic population.[PMID 30541753 ]

ClinVar
Risk	rs80359303(-;-)
Alt	rs80359303(-;-)
Reference	Rs80359303(AAAT;AAAT)
Significance	Pathogenic
Disease	Hereditary breast and ovarian cancer syndrome Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided
Variation	info
Gene	BRCA2
CLNDBN	Hereditary breast and ovarian cancer syndrome Familial cancer of breast Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome not provided
Reversed	0
HGVS	NC_000013.10:g.32907378_32907381delATAA
CLNSRC	Breast Cancer Information Core (BRCA2)
CLNACC	RCV000043877.3, RCV000074515.5, RCV000077264.5, RCV000131054.3, RCV000254640.1,