ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.1281del (p.His428fs)

dbSNP: rs1783147885
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001050827 SCV001214953 pathogenic Hereditary nonpolyposis colorectal neoplasms 2023-03-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 847304). This premature translational stop signal has been observed in individual(s) with colorectal cancer (PMID: 27978560). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.His428Thrfs*20) in the PMS2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PMS2 are known to be pathogenic (PMID: 21376568, 24362816).
Color Diagnostics, LLC DBA Color Health RCV001178389 SCV001342827 pathogenic Hereditary cancer-predisposing syndrome 2020-01-27 criteria provided, single submitter clinical testing This variant deletes 1 nucleotide in exon 11 of the PMS2 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has been reported in an individual affected with Lynch syndrome (PMID: 29596542). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of PMS2 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV003320796 SCV004025119 likely pathogenic not provided 2023-08-15 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV003455217 SCV004188585 pathogenic Lynch syndrome 4 2023-09-20 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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