rs28897746

Orientation

plus

Stabilized

plus

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

Make rs28897746(C;C)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32363259

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs28897746
dbSNP (classic)	rs28897746
ClinGen	rs28897746
ebi	rs28897746
HLI	rs28897746
Exac	rs28897746
Gnomad	rs28897746
Varsome	rs28897746
LitVar	rs28897746
Map	rs28897746
PheGenI	rs28897746
Biobank	rs28897746
1000 genomes	rs28897746
hgdp	rs28897746
ensembl	rs28897746
geneview	rs28897746
scholar	rs28897746
google	rs28897746
pharmgkb	rs28897746
gwascentral	rs28897746
openSNP	rs28897746
23andMe	rs28897746
SNPshot	rs28897746
SNPdbe	rs28897746
MSV3d	rs28897746
GWAS Ctlg	rs28897746

Max Magnitude

6

aka c.8057T>C (p.Leu2686Pro)

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

?	(C;C) (C;T) (T;T)	28

ClinVar
Risk	rs28897746(C;C)
Alt	rs28897746(C;C)
Reference	Rs28897746(T;T)
Significance	Probable-Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer not provided
Variation	info
Gene	BRCA2
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 2 not provided
Reversed	0
HGVS	NC_000013.10:g.32937396T>C
CLNSRC	ClinVar
CLNACC	RCV000045405.2, RCV000113861.1, RCV000479056.1,