G9V (p.Gly9Val) variant of MSH3 (DNA mismatch repair protein Msh3)
G9V (p.Gly9Val) in MSH3 (DNA mismatch repair protein Msh3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; not specified; Endometrial carcinoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
G9V (p.Gly9Val) variant details
- p.Gly9Val
- rs369278563
- ClinGen CA360264815
- ClinVar RCV001210126
- ClinVar RCV002282484
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not specified; Endometrial carcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.24
- CADD 20.50
- PolyPhen-2 0.26
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not specified; Endometr)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology… (PMID 24493721)
- Cited in: Endometrial cancer: a review and current management strategies: part I. (PMID 24905773)