G68S (p.Gly68Ser) variant of FANCC (Fanconi anemia group C protein)
G68S (p.Gly68Ser) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes published literature and structural context.
G68S (p.Gly68Ser) variant details
- p.Gly68Ser
- rs777111154
- ClinGen CA374340090
- ClinVar RCV000709094
- ClinVar RCV004723125
- Uncertain significance
- Fanconi anemia complementation group C; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- AlphaMissense 0.22
- MetaLR 0.16
- MetaSVM -0.83
- PolyPhen-2 0.19
- SIFT 0.00
- EVE 0.27
- ClinVar: Uncertain significance (Fanconi anemia complementation group C; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)