D56V (p.Asp56Val) variant of FANCC (Fanconi anemia group C protein)
D56V (p.Asp56Val) 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 Hereditary cancer-predisposing syndrome; Fanconi anemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
D56V (p.Asp56Val) variant details
- p.Asp56Val
- rs759662786
- ClinGen CA5137810
- ClinVar RCV002002929
- ClinVar RCV004946984
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Fanconi anemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- REVEL 0.36
- AlphaMissense 0.26
- MetaLR 0.25
- MetaSVM -0.61
- CADD 33.00
- PolyPhen-2 0.99
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Fanconi anemia)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 3e-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)