ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.1912del (p.Gln638fs)

dbSNP: rs1562626070
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759916 SCV000889613 pathogenic not provided 2018-05-01 criteria provided, single submitter clinical testing
Invitae RCV000811623 SCV000951898 pathogenic Hereditary nonpolyposis colorectal neoplasms 2022-03-17 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: 619889). This variant has not been reported in the literature in individuals affected with PMS2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln638Lysfs*27) 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).
MGZ Medical Genetics Center RCV002290006 SCV002581639 likely pathogenic Mismatch repair cancer syndrome 4 2021-07-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002406685 SCV002720576 pathogenic Hereditary cancer-predisposing syndrome 2022-04-27 criteria provided, single submitter clinical testing The c.1912delC variant, located in coding exon 11 of the PMS2 gene, results from a deletion of one nucleotide at nucleotide position 1912, causing a translational frameshift with a predicted alternate stop codon (p.Q638Kfs*27). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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. RCV003453564 SCV004188650 pathogenic Lynch syndrome 4 2023-09-21 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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