N47S (p.Asn47Ser) variant of FLNC (Filamin-C)
N47S (p.Asn47Ser) in FLNC (Filamin-C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Myofibrillar myopathy 5; Hypertrophic cardiomyopathy 26; Distal myopathy with po. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
N47S (p.Asn47Ser) variant details
- p.Asn47Ser
- rs770861991
- ClinGen CA4473963
- ClinVar RCV001731932
- ClinVar RCV002388463
- Conflicting interpretations
- Myofibrillar myopathy 5; Hypertrophic cardiomyopathy 26; Distal myopathy with po
- Missense
- Variant Prioritization Score for Impact Estimate 0.645
- REVEL 0.65
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Myofibrillar myopathy 5; Hypertrophic cardiomyopathy 26; Distal)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)
- Cited in: ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of… (PMID 34012068)