Q3H (p.Gln3His) variant of FANCC (Fanconi anemia group C protein)
Q3H (p.Gln3His) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
Q3H (p.Gln3His) variant details
- p.Gln3His
- rs769585639
- ClinGen CA5137852
- cosmic curated COSV56663
- ClinVar RCV000518936
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Fanconi anemia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.04
- CADD 17.70
- PolyPhen-2 0.06
- SIFT 0.05
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Fanconi anemia; not pro)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-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)