A72S (p.Ala72Ser) variant of FANCC (Fanconi anemia group C protein)
A72S (p.Ala72Ser) 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; not provided; Fanconi anemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
A72S (p.Ala72Ser) variant details
- p.Ala72Ser
- rs567465885
- ClinGen CA374340067
- ClinVar RCV001761471
- ClinVar RCV002540462
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided; Fanconi anemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.19
- REVEL 0.09
- CADD 22.60
- PolyPhen-2 0.11
- SIFT 0.02
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided; Fanconi a)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-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)