rs80359406

plus

Geno	Mag	Summary
(-;A)	6	BRCA2 variant considered pathogenic for breast cancer
(-;AA)	6	BRCA2 variant considered pathogenic for breast cancer
(-;AAAA)	6	BRCA2 variant considered pathogenic for breast cancer
(A;A)	0	common in clinvar

Make rs80359406(-;-)

Reference

GRCh38 38.1/142

Chromosome

13

Position

32338209

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359406
dbSNP (classic)	rs80359406
ClinGen	rs80359406
ebi	rs80359406
HLI	rs80359406
Exac	rs80359406
Gnomad	rs80359406
Varsome	rs80359406
LitVar	rs80359406
Map	rs80359406
PheGenI	rs80359406
Biobank	rs80359406
1000 genomes	rs80359406
hgdp	rs80359406
ensembl	rs80359406
geneview	rs80359406
scholar	rs80359406
google	rs80359406
pharmgkb	rs80359406
gwascentral	rs80359406
openSNP	rs80359406
23andMe	rs80359406
SNPshot	rs80359406
SNPdbe	rs80359406
MSV3d	rs80359406
GWAS Ctlg	rs80359406

Merged from

Rs80359411

Max Magnitude

6

rs80359406 is a SNP covering a run of seven A's in the BRCA2 gene, and variants of it can represent either a duplication (dupA) or any of several deletions (delA, delAA, delAAA, delAAAA, etc). With the exception of delAAA (c.3858_3860delAAA), which is likely to be benign, all the rest are considered pathogenic in ClinVar for breast cancer.

ClinVar
Risk	rs80359406(-;-)
Alt	rs80359406(-;-)
Reference	Rs80359406(A;A)
Significance	Pathogenic
Disease	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided Tumor susceptibility linked to germline BAP1 mutations 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 Tumor susceptibility linked to germline BAP1 mutations Familial cancer of breast
Reversed	0
HGVS	NC_000013.10:g.32912352delA
CLNSRC	Breast Cancer Information Core (BRCA2)
CLNACC	RCV000044288.5, RCV000077316.7, RCV000131539.1, RCV000212232.2, RCV000214509.1, RCV000468572.1,