ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.1937-423G>A

gnomAD frequency: 0.00304  dbSNP: rs144719031
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen CDH1 Variant Curation Expert Panel RCV003328274 SCV001142253 benign CDH1-related diffuse gastric and lobular breast cancer syndrome 2023-08-08 reviewed by expert panel curation The c.1937-423G>A variant is an intronic variant within intron 12. The variant has an allele frequency of 0.00289 (89/30842) in gnomAD (BA1; http://gnomad.broadinstitute.org). The allele is observed exclusively in the African subpopulation, with a frequency of 0.01022 (89/8708) and including one homozygote, suggesting that it may be a polymorphism in this population. In summary, this variant meets criteria to be classified as benign based on the ACMG/AMP criteria applied as specified by the CDH1 Variant Curation Expert Panel (Variant Interpretation Guidelines Version 3.1): BA1.
University of Washington Department of Laboratory Medicine, University of Washington RCV000209222 SCV000265092 likely benign Hereditary cancer-predisposing syndrome 2015-12-01 no assertion criteria provided clinical testing

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