ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.480_486delinsAGAATA (p.Ile161fs)

dbSNP: rs1555515217
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen CDH1 Variant Curation Expert Panel RCV003328408 SCV001365454 pathogenic CDH1-related diffuse gastric and lobular breast cancer syndrome 2023-08-25 reviewed by expert panel curation The c.480_486delinsAGAATA p.(Ile161Glufs*54) variant is predicted to result in a premature stop codon that leads to a truncated or absent protein (PVS1, PM5_Supporting). The variant is absent in the gnomAD cohort (PM2_Supporting; http://gnomad.broadinstitute.org). This variant has been reported in at least one family meeting HDGC clinical criteria (PS4_Supporting; SCV000661678.2). In summary, this variant meets criteria to be classified as pathogenic based on the ACMG/AMP criteria applied as specified by the CDH1 Variant Curation Expert Panel (Variant Interpretation Guidelines Version 3.1): PVS1, PM2_Supporting, PS4_Supporting, PM5_Supporting.
Ambry Genetics RCV000563868 SCV000661678 pathogenic Hereditary cancer-predisposing syndrome 2017-03-21 criteria provided, single submitter clinical testing The c.480_486delCATCAGCinsAGAATA pathogenic mutation, located in coding exon 4 of the CDH1 gene, results from the deletion of 7 nucleotides and insertion of 6 nucleotides causing a translational frameshift with a predicted alternate stop codon (p.I161Efs*54). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Myriad Genetics, Inc. RCV003335486 SCV004043034 pathogenic Hereditary diffuse gastric adenocarcinoma 2023-06-09 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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