G11S (p.Gly11Ser) variant of FLNC (Filamin-C)
G11S (p.Gly11Ser) in FLNC (Filamin-C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
G11S (p.Gly11Ser) variant details
- p.Gly11Ser
- rs370512642
- ClinGen CA4473953
- ClinVar RCV001592807
- ClinVar RCV002325297
- Conflicting interpretations
- Cardiovascular phenotype; Distal myopathy with posterior leg and anterior hand i
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.21
- CADD 23.20
- PolyPhen-2 0.02
- SIFT 0.13
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Distal myopathy with posterior leg and)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-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)