rs80359538

plus

Geno	Mag	Summary
(-;CCAA)	6	Possible miscall in Ancestry v2d data; otherwise, BRCA2 variant considered pathogenic for breast cancer
(AACC;AACC)	0	common in clinvar
(CCAA;CCAA)	0	common in clinvar

Make rs80359538(-;-)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32340154

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359538
dbSNP (classic)	rs80359538
ClinGen	rs80359538
ebi	rs80359538
HLI	rs80359538
Exac	rs80359538
Gnomad	rs80359538
Varsome	rs80359538
LitVar	rs80359538
Map	rs80359538
PheGenI	rs80359538
Biobank	rs80359538
1000 genomes	rs80359538
hgdp	rs80359538
ensembl	rs80359538
geneview	rs80359538
scholar	rs80359538
google	rs80359538
pharmgkb	rs80359538
gwascentral	rs80359538
openSNP	rs80359538
23andMe	rs80359538
SNPshot	rs80359538
SNPdbe	rs80359538
MSV3d	rs80359538
GWAS Ctlg	rs80359538

Max Magnitude

6

rs80359538, also known as 6027del4, c.5799_5802delCCAA and p.Asn1933_Gln1934?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80359538(-;-)
Alt	rs80359538(-;-)
Reference	Rs80359538(AACC;AACC)
Significance	Pathogenic
Disease	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided Familial cancer of breast
Variation	info
Gene	BRCA2
CLNDBN	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome not provided Familial cancer of breast
Reversed	0
HGVS	NC_000013.10:g.32914291_32914294delCCAA
CLNSRC	Breast Cancer Information Core (BRCA2)
CLNACC	RCV000044761.4, RCV000113485.6, RCV000131107.3, RCV000160298.2, RCV000472040.1,