V60I (p.Val60Ile) variant of FANCC (Fanconi anemia group C protein)
V60I (p.Val60Ile) in FANCC (Fanconi anemia group C protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer; Hereditary cancer-predisposing syndrome; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
V60I (p.Val60Ile) variant details
- p.Val60Ile
- rs138629441
- ClinGen CA287202
- cosmic curated COSV10461
- ClinVar RCV000115347
- Conflicting interpretations
- Hereditary cancer; Hereditary cancer-predisposing syndrome; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0882
- REVEL 0.10
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 0.76
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer; Hereditary cancer-predisposing syndrome; not)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 0.0019)
- 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)