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VHL codon(s) 430 nonsense
GeneVHL
Variantnonsense
Transcript ID (GRCh37/hg19)ENST00000256474
Codon430
Exon3
Genomic Coordinates (GRCh37/hg19)3:10192295-10192297
Germline/Somatic?Somatic
Pertinent Negative In
Tumor TypePrimary Site
See All Pertinent Negatives

Interpretations

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VHL
Variants
VHL codon(s) 430 nonsense
Primary Sites
Lung
Tumor Types
Non-Small Cell Lung Carcinoma
Interpretation

The Von Hippel-Lindau (vHL) gene encodes a protein that is involved in the ubiquitination and degradation of hypoxia-inducible-factor (HIF), which is a transcription factor that plays a central role in the regulation of gene expression by oxygen. The VHL gene may be altered as a somatic (acquired) alteration and/or as a germline alteration associated with a rare autosomal dominant inherited cancer syndrome predisposing to a variety of malignant and benign tumors including clear cell renal cell carcinoma (ccRCC). Alterations in VHL have been reported in less than 1% of lung adenocarcinomas. The VHL p.G144* has been reported in multiple renal cell carcinomas as a somatic alteration. According to ClinVar, the VHL p.G144* is also reported as a pathogenic germline variant (https://www.ncbi.nlm.nih.gov/clinvar/variation/223208/). These results should be interpreted in the clinicopathologic context and appropriate germline genetic workup may be considered if clinically indicated.

Last updated: 2019-08-29 17:49:41 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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