V38M (p.Val38Met) variant of FANCC (Fanconi anemia group C protein)
V38M (p.Val38Met) 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 Fanconi anemia; Hereditary cancer-predisposing syndrome; Fanconi anemia compleme. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
V38M (p.Val38Met) variant details
- p.Val38Met
- rs778951584
- ClinGen CA5137833
- NCI-TCGA Cosmic COSV1000
- NCI-TCGA Cosmic COSV5666
- Conflicting interpretations
- Fanconi anemia; Hereditary cancer-predisposing syndrome; Fanconi anemia compleme
- Missense
- Variant Prioritization Score for Impact Estimate 0.162
- REVEL 0.06
- CADD 18.80
- PolyPhen-2 0.01
- SIFT 0.05
- ClinVar: Conflicting classifications of pathogenicity (Fanconi anemia; Hereditary cancer-predisposing syndrome; Fanconi)
- 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)