M48T (p.Met48Thr) variant of FANCC (Fanconi anemia group C protein)
M48T (p.Met48Thr) 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 Fanconi anemia complementation group C; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
M48T (p.Met48Thr) variant details
- p.Met48Thr
- rs1353498563
- ClinGen CA374340237
- NCI-TCGA Cosmic COSV1000
- cosmic curated COSV10000
- Uncertain significance
- Fanconi anemia complementation group C; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.12
- CADD 21.20
- PolyPhen-2 0.03
- SIFT 0.07
- ClinVar: Uncertain significance (Fanconi anemia complementation group C; Hereditary cancer-predis)
- 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)