A1186V (p.Ala1186Val) variant of FLNC (Filamin-C)
A1186V (p.Ala1186Val) in FLNC (Filamin-C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic c. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
A1186V (p.Ala1186Val) variant details
- p.Ala1186Val
- rs1114167361
- ClinGen CA369197234
- NCI-TCGA Cosmic COSV5795
- cosmic curated COSV57951
- Pathogenic/Likely pathogenic
- Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic c
- Missense
- Variant Prioritization Score for Impact Estimate 0.662
- REVEL 0.56
- MetaLR 0.75
- MetaSVM 0.67
- CADD 24.00
- PolyPhen-2 0.81
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (Distal myopathy with posterior leg and anterior hand involvement)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- 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)