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rs387906848

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BAP1 syndrome; tumor susceptibility/predisposition
Make rs387906848(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position52402608
GeneBAP1
is asnp
is mentioned by
dbSNPrs387906848
dbSNP (old)rs387906848
ClinGenrs387906848
ebirs387906848
HLIrs387906848
Exacrs387906848
Gnomadrs387906848
Varsomers387906848
Maprs387906848
PheGenIrs387906848
Biobankrs387906848
1000 genomesrs387906848
hgdprs387906848
ensemblrs387906848
gopubmedrs387906848
geneviewrs387906848
scholarrs387906848
googlers387906848
pharmgkbrs387906848
gwascentralrs387906848
openSNPrs387906848
23andMers387906848
23andMe allrs387906848
SNP Nexus

SNPshotrs387906848
SNPdbers387906848
MSV3drs387906848
GWAS Ctlgrs387906848
Max Magnitude6

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,