G11C (p.Gly11Cys) variant of FLNC (Filamin-C)
G11C (p.Gly11Cys) in FLNC (Filamin-C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Distal myopathy with posterior leg and anterior hand i. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
G11C (p.Gly11Cys) variant details
- p.Gly11Cys
- rs370512642
- ClinGen CA166206962
- ClinVar RCV002320324
- ClinVar RCV006608330
- Uncertain significance
- Cardiovascular phenotype; Distal myopathy with posterior leg and anterior hand i
- Missense
- Variant Prioritization Score for Impact Estimate 0.519
- REVEL 0.42
- CADD 25.40
- PolyPhen-2 0.37
- SIFT 0.01
- ClinVar: Uncertain significance (Cardiovascular phenotype; Distal myopathy with posterior leg and)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available
- Cited in: ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of… (PMID 34012068)
- Cited in: ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of… (PMID 35802134)