H37D (p.His37Asp) variant of FANCC (Fanconi anemia group C protein)
H37D (p.His37Asp) 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 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
H37D (p.His37Asp) variant details
- p.His37Asp
- rs864622230
- ClinGen CA349729
- ClinVar RCV000205596
- ClinVar RCV001017291
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided; Fanconi anemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.47
- CADD 24.10
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided; Fanconi a)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-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)