G6S (p.Gly6Ser) variant of FLNC (Filamin-C)
G6S (p.Gly6Ser) in FLNC (Filamin-C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Myofibrillar myopathy 5; Hypertrophic cardiomyopathy 26; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
G6S (p.Gly6Ser) variant details
- p.Gly6Ser
- rs1284761356
- ClinGen CA369215404
- ClinVar RCV006608201
- TOPMed rs1284761356
- Uncertain significance
- Myofibrillar myopathy 5; Hypertrophic cardiomyopathy 26; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.21
- AlphaMissense 0.22
- MetaLR 0.45
- MetaSVM -0.56
- CADD 16.90
- PolyPhen-2 0.01
- ClinVar: Uncertain significance (Myofibrillar myopathy 5; Hypertrophic cardiomyopathy 26; not pro)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.3e-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)