M26V (p.Met26Val) variant of BARD1 (Q99728)
M26V (p.Met26Val) in BARD1 (Q99728) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
M26V (p.Met26Val) variant details
- p.Met26Val
- rs587781570
- ClinGen CA164756
- cosmic curated COSV10941
- ClinVar RCV000129604
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.44
- CADD 23.80
- PolyPhen-2 0.62
- SIFT 0.01
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not specified; not prov)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:KHV population (allele frequency 0.005)
- Structural context available
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National… (PMID 17508274)