G76C (p.Gly76Cys) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
G76C (p.Gly76Cys) in HNF1B (Hepatocyte nuclear factor 1-beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided; Nonpapillary renal cell carcinoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
G76C (p.Gly76Cys) variant details
- p.Gly76Cys
- rs144425830
- ClinGen CA200314
- ClinVar RCV000173138
- ClinVar RCV000369522
- Conflicting interpretations
- not specified; not provided; Nonpapillary renal cell carcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.825
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; Nonpapillary renal cell carcinoma)
- EBI: Likely benign (in RCAD)
- UniProt: Likely benign (in RCAD)
- Most common in the HGDP:MOZABITE population (allele frequency 0.12)
- Structural context available
- Cited in: Large genomic rearrangements in the hepatocyte nuclear factor-1beta (TCF2) gene are the most frequent cause of… (PMID 16249435)
- Cited in: 17q12 Recurrent Deletion Syndrome. (PMID 27929632)