ClinVar Miner

Submissions for variant NM_006218.4(PIK3CA):c.2198A>G (p.Lys733Arg)

gnomAD frequency: 0.00011  dbSNP: rs181194055
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Brain Malformations Variant Curation Expert Panel RCV001836836 SCV001949967 benign Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes 2022-02-12 reviewed by expert panel curation The c.2198A>G (NM_006218.4) variant in PIK3CA is a missense variant predicted to cause substitution of (p.Lys733Arg). The highest population minor allele frequency in gnomAD v2.1.1 is 0.005643 in the East Asian population, which is higher than the ClinGen BMEP threshold ([>=0.00185]) for BA1, and therefore meets this criterion (BA1). PIK3CA, in which the variant was identified, is defined by the ClinGen Brain Malformations Expert Panel as a gene that has a low rate of benign missense variation and where pathogenic missense variants are a common mechanism of disease (PP2). In summary, this variant meets the criteria to be classified as 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: BA1, PP2; -7 points (VCEP specifications version 1; Approved: 1/31/2021)
Invitae RCV000539180 SCV000626815 benign Cowden syndrome 2024-01-29 criteria provided, single submitter clinical testing

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