rs80359735

plus

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

Make rs80359735(C;C)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32332375

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359735
dbSNP (classic)	rs80359735
ClinGen	rs80359735
ebi	rs80359735
HLI	rs80359735
Exac	rs80359735
Gnomad	rs80359735
Varsome	rs80359735
LitVar	rs80359735
Map	rs80359735
PheGenI	rs80359735
Biobank	rs80359735
1000 genomes	rs80359735
hgdp	rs80359735
ensembl	rs80359735
geneview	rs80359735
scholar	rs80359735
google	rs80359735
pharmgkb	rs80359735
gwascentral	rs80359735
openSNP	rs80359735
23andMe	rs80359735
SNPshot	rs80359735
SNPdbe	rs80359735
MSV3d	rs80359735
GWAS Ctlg	rs80359735

Max Magnitude

6

rs80359735, also known as 1125insC, c.897_898insC and p.Val299_Val300?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

Note: the 23andMe probe (i5010476) corresponding to this genotype is unreliable (prone to false results).

ClinVar
Risk	rs80359735(C;C)
Alt	rs80359735(C;C)
Reference	Rs80359735(-;-)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer
Variation	info
Gene	BRCA2
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 2
Reversed	0
HGVS	NC_000013.10:g.32906512_32906513insC
CLNSRC	Breast Cancer Information Core (BRCA2)
CLNACC	RCV000045679.2, RCV000112860.2,