H37Q (p.His37Gln) variant of FANCC (Fanconi anemia group C protein)
H37Q (p.His37Gln) 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 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
H37Q (p.His37Gln) variant details
- p.His37Gln
- rs751219956
- ClinGen CA374340309
- ClinVar RCV004520506
- ClinVar RCV005100672
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Fanconi anemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.539
- REVEL 0.41
- CADD 22.80
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Fanconi anemia)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 8.1e-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)