G15S (p.Gly15Ser) variant of FLNC (Filamin-C)
G15S (p.Gly15Ser) 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; Distal myopathy with posterior leg and anterior hand in. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
G15S (p.Gly15Ser) variant details
- p.Gly15Ser
- rs1263243888
- ClinGen CA369215481
- ClinVar RCV004727093
- ClinVar RCV005340750
- Uncertain significance
- Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand in
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.04
- CADD 20.10
- PolyPhen-2 0.01
- SIFT 0.17
- ClinVar: Uncertain significance (Myofibrillar myopathy 5; Distal myopathy with posterior leg and)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)