rs80359351

plus

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

Make rs80359351(-;-)

Reference

GRCh38 38.1/142

Chromosome

13

Position

32337161

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359351
dbSNP (classic)	rs80359351
ClinGen	rs80359351
ebi	rs80359351
HLI	rs80359351
Exac	rs80359351
Gnomad	rs80359351
Varsome	rs80359351
LitVar	rs80359351
Map	rs80359351
PheGenI	rs80359351
Biobank	rs80359351
1000 genomes	rs80359351
hgdp	rs80359351
ensembl	rs80359351
geneview	rs80359351
scholar	rs80359351
google	rs80359351
pharmgkb	rs80359351
gwascentral	rs80359351
openSNP	rs80359351
23andMe	rs80359351
SNPshot	rs80359351
SNPdbe	rs80359351
MSV3d	rs80359351
GWAS Ctlg	rs80359351

Merged from

Rs80359352

Max Magnitude

6

rs80359351, also known as 3034del4, c.2806_2809delAAAC and p.Lys936_Gln937?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 ]

23andMe name: i5009191

ClinVar
Risk	rs80359351(-;-) rs80359351(ACAA;ACAA)
Alt	rs80359351(-;-) rs80359351(ACAA;ACAA)
Reference	Rs80359351(AAAC;AAAC)
Significance	Pathogenic
Disease	Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided Breast-ovarian cancer not specified Neoplasm of breast Familial cancer of breast
Variation	info
Gene	BRCA2
CLNDBN	Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided Breast-ovarian cancer, familial 1 not specified Neoplasm of breast Familial cancer of breast
Reversed	0
HGVS	NC_000013.10:g.32911300_32911303delACAA
CLNSRC	Breast Cancer Information Core (BRCA2) OMIM Allelic Variant
CLNACC	RCV000009907.9, RCV000044064.9, RCV000131102.4, RCV000160273.3, RCV000210161.1, RCV000238794.1, RCV000240755.3, RCV000458791.1,