rs55996097

Orientation

plus

Stabilized

plus

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

Make rs55996097(A;A)

Make rs55996097(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

13

Position

32339990

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs55996097
dbSNP (classic)	rs55996097
ClinGen	rs55996097
ebi	rs55996097
HLI	rs55996097
Exac	rs55996097
Gnomad	rs55996097
Varsome	rs55996097
LitVar	rs55996097
Map	rs55996097
PheGenI	rs55996097
Biobank	rs55996097
1000 genomes	rs55996097
hgdp	rs55996097
ensembl	rs55996097
geneview	rs55996097
scholar	rs55996097
google	rs55996097
pharmgkb	rs55996097
gwascentral	rs55996097
openSNP	rs55996097
23andMe	rs55996097
SNPshot	rs55996097
SNPdbe	rs55996097
MSV3d	rs55996097
GWAS Ctlg	rs55996097

Max Magnitude

6

aka c.5635G>T (p.Glu1879Ter), but note also presence of c.5635G>A (p.Glu1879Lys)

In ClinVar, c.5635G>T is considered a pathogenic BRCA2 mutation by expert consensus, whereas c.5635G>A is most likely benign or perhaps a VUS.

ClinVar
Risk	rs55996097(A;A) rs55996097(T;T)
Alt	rs55996097(A;A) rs55996097(T;T)
Reference	Rs55996097(G;G)
Significance	Other
Disease	Breast-ovarian cancer Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome not specified Fanconi anemia
Variation	info
Gene	BRCA2
CLNDBN	Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome not specified Fanconi anemia
Reversed	0
HGVS	NC_000013.10:g.32914127G>A; NC_000013.10:g.32914127G>T
CLNSRC
CLNACC	RCV000077357.4, RCV000129072.3, RCV000167807.5, RCV000168580.4, RCV000336386.1, RCV000165477.1, RCV000241263.2,