A5S (p.Ala5Ser) variant of LAMA2 (Laminin subunit alpha-2)
A5S (p.Ala5Ser) in LAMA2 (Laminin subunit alpha-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; LAMA2-related muscular dystrophy; not provided. The record also includes variant effect predictions, population frequency data, and published literature.
A5S (p.Ala5Ser) variant details
- p.Ala5Ser
- rs367622987
- ClinGen CA3992191
- ClinVar RCV001090686
- ClinVar RCV002554817
- Conflicting interpretations
- Inborn genetic diseases; LAMA2-related muscular dystrophy; not provided
- Missense
- REVEL 0.04
- CADD 17.00
- PolyPhen-2 0.05
- SIFT 0.16
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; LAMA2-related muscular dystrophy; not p)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)