A28S (p.Ala28Ser) variant of DSC2 (Desmocollin-2)
A28S (p.Ala28Ser) in DSC2 (Desmocollin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; Primary familial dilated cardiomyopathy; Familial isol. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
A28S (p.Ala28Ser) variant details
- p.Ala28Ser
- rs139979318
- ClinGen CA040172
- ClinVar RCV000223928
- ClinVar RCV000246853
- Conflicting interpretations
- Cardiovascular phenotype; Primary familial dilated cardiomyopathy; Familial isol
- Missense
- Variant Prioritization Score for Impact Estimate 0.161
- REVEL 0.05
- CADD 8.54
- PolyPhen-2 0.06
- SIFT 0.41
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Primary familial dilated cardiomyopath)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 0.00049)
- Structural context available
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)