rs387906848

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	6	BAP1 Tumor Predisposition Syndrome

Make rs387906848(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

52402608

Gene

BAP1

is a	snp
is	mentioned by
dbSNP	rs387906848
dbSNP (classic)	rs387906848
ClinGen	rs387906848
ebi	rs387906848
HLI	rs387906848
Exac	rs387906848
Gnomad	rs387906848
Varsome	rs387906848
LitVar	rs387906848
Map	rs387906848
PheGenI	rs387906848
Biobank	rs387906848
1000 genomes	rs387906848
hgdp	rs387906848
ensembl	rs387906848
geneview	rs387906848
scholar	rs387906848
google	rs387906848
pharmgkb	rs387906848
gwascentral	rs387906848
openSNP	rs387906848
23andMe	rs387906848
SNPshot	rs387906848
SNPdbe	rs387906848
MSV3d	rs387906848
GWAS Ctlg	rs387906848

Max Magnitude

6

aka c.2050C>T, p.Gln684Ter, and Q684X

rs387906848(T) is likely to be the most frequent BAP1 gene mutation associated with BAP1 tumor predisposition syndrome [PMID 28793149 ], a dominantly inherited condition that increases the risk of a variety of cancerous (malignant) and noncancerous (benign) tumors, including the following:

Skin cancers: cutaneous melanoma and basal cell carcinoma
A type of eye cancer called uveal melanoma
Malignant mesothelioma, which is cancer of the mesothelium, most often occuring in the membrane that lines the abdomen and covers the abdominal organs
A form of kidney cancer called clear cell renal cell carcinoma

ClinVar
Risk	rs387906848(T;T)
Alt	rs387906848(T;T)
Reference	Rs387906848(C;C)
Significance	Pathogenic
Disease	Tumor susceptibility linked to germline BAP1 mutations not provided
Variation	info
Gene	BAP1
CLNDBN	Tumor susceptibility linked to germline BAP1 mutations not provided
Reversed	1
HGVS	NC_000003.11:g.52436624G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000023237.2, RCV000487149.1,