Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV001837026 | SCV001949960 | likely benign | Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes | 2022-02-12 | reviewed by expert panel | curation | The c.320C>T (NM_005027.4) variant in PIK3R2 is a missense variant predicted to cause substitution of (p.Pro107Leu). The highest population minor allele frequency in gnomAD v2.1.1 is 0.001838 in the European (Finnish) population, which is higher than the ClinGen BMEP threshold ([>0.00037]) for BS1, and therefore meets this criterion (BS1). In summary, this variant meets the criteria to be classified as Likely benign for mosaic autosomal dominant overgrowth with or without cerebral malformations due to abnormalities in MTOR-pathway genes based on the ACMG/AMP criteria applied, as specified by the ClinGen Brain Malformations Expert Panel: BS1; -4 points (VCEP specifications version 1; Approved: 1/31/2021) |