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SMARCB1
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SMARCB1 A203T
GeneSMARCB1
Variantmissense
Amino Acid ChangeA203T
Transcript ID (GRCh37/hg19)ENST00000263121
Codon203
Exon5
Genomic Coordinates (GRCh37/hg19)22:24145588-24145588
COSMIC ID999
Germline/Somatic?Somatic
Pertinent Negative In
Tumor TypePrimary Site
See All Pertinent Negatives

Interpretations

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SMARCB1
Variants
SMARCB1 A203T
Primary Sites
Kidney
Ureter
Bladder
Tumor Types
Urothelial Carcinoma
Interpretation

SMARCB1 is a member of the SWI/SNF chromatin remodeling complex and regulates transcription of several genes involved in cell proliferation. SMARCB1 mutations are rare in urothelial carcinomas and are found in about 2% of cases. SMARCB1 A203T is considered a variant of uncertain significance and has not been well classified in the literature. This variant has been reported a somatic mutation in a case of colon adenocarcinoma however this variant has also been reported a germline finding in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/25553173/). These results should be interpreted in the clinicopathologic context.

Last updated: 2018-05-24 20:13:48 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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