M16V (p.Met16Val) variant of FANCC (Fanconi anemia group C protein)
M16V (p.Met16Val) in FANCC (Fanconi anemia group C protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Fanconi anemia; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
M16V (p.Met16Val) variant details
- p.Met16Val
- rs1390412870
- ClinGen CA374340456
- ClinVar RCV000707263
- ClinVar RCV002469272
- Uncertain significance
- not specified; Fanconi anemia; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.167
- REVEL 0.08
- CADD 19.90
- PolyPhen-2 0.08
- SIFT 0.01
- ClinVar: Uncertain significance (not specified; Fanconi anemia; Hereditary cancer-predisposing sy)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: Carrier screening in individuals of Ashkenazi Jewish descent. (PMID 18197057)
- Cited in: ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of… (PMID 19888064)