rs80359307

plus

Geno	Mag	Summary
(-;A)	6	Likely miscall in 23andMe v5 data; otherwise, BRCA2 variant considered pathogenic for breast cancer
(A;A)	0	common in clinvar

Make rs80359307(-;-)

Reference

GRCh38 38.1/142

Chromosome

13

Position

32333284

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359307
dbSNP (classic)	rs80359307
ClinGen	rs80359307
ebi	rs80359307
HLI	rs80359307
Exac	rs80359307
Gnomad	rs80359307
Varsome	rs80359307
LitVar	rs80359307
Map	rs80359307
PheGenI	rs80359307
Biobank	rs80359307
1000 genomes	rs80359307
hgdp	rs80359307
ensembl	rs80359307
geneview	rs80359307
scholar	rs80359307
google	rs80359307
pharmgkb	rs80359307
gwascentral	rs80359307
openSNP	rs80359307
23andMe	rs80359307
SNPshot	rs80359307
SNPdbe	rs80359307
MSV3d	rs80359307
GWAS Ctlg	rs80359307

Merged from

Rs80359309

Max Magnitude

6

rs80359307, also known as 2034delA, c.1806_1806delA and p.Gly602=fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

Note that while rs80359307 and rs80359306 occur at a similar position in the BRCA2 gene, they represent a deletion versus an insertion, respectively.

ClinVar
Risk	rs80359307(-;-)
Alt	rs80359307(-;-)
Reference	Rs80359307(A;A)
Significance	Pathogenic
Disease	Breast-ovarian cancer not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Variation	info
Gene	BRCA2
CLNDBN	Breast-ovarian cancer, familial 2 not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Reversed	0
HGVS	NC_000013.10:g.32907428delA
CLNSRC	Breast Cancer Information Core (BRCA2)
CLNACC	RCV000031344.10, RCV000043896.5, RCV000132177.3, RCV000203637.2,