rs80359014

Orientation

plus

Stabilized

plus

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

Make rs80359014(T;T)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32362596

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359014
dbSNP (classic)	rs80359014
ClinGen	rs80359014
ebi	rs80359014
HLI	rs80359014
Exac	rs80359014
Gnomad	rs80359014
Varsome	rs80359014
LitVar	rs80359014
Map	rs80359014
PheGenI	rs80359014
Biobank	rs80359014
1000 genomes	rs80359014
hgdp	rs80359014
ensembl	rs80359014
geneview	rs80359014
scholar	rs80359014
google	rs80359014
pharmgkb	rs80359014
gwascentral	rs80359014
openSNP	rs80359014
23andMe	rs80359014
SNPshot	rs80359014
SNPdbe	rs80359014
MSV3d	rs80359014
GWAS Ctlg	rs80359014

Max Magnitude

6

aka c.7879A>T (p.Ile2627Phe)

Classified as a BRCA2 gene pathogenic mutation for breast cancer based on likelihood cited in ClinVar and in [PMID 29394989]

ClinVar
Risk	rs80359014(G;G) rs80359014(T;T)
Alt	rs80359014(G;G) rs80359014(T;T)
Reference	Rs80359014(A;A)
Significance	Pathogenic
Disease	Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer not provided not specified
Variation	info
Gene	BRCA2
CLNDBN	Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 not provided not specified
Reversed	0
HGVS	NC_000013.10:g.32936733A>G; NC_000013.10:g.32936733A>T
CLNSRC	Ambry Genetics ClinVar
CLNACC	RCV000130167.2, RCV000045337.4, RCV000077415.5, RCV000131675.3, RCV000218666.2, RCV000238686.1,