ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.2474del (p.Ser825fs)

dbSNP: rs1573578423
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000805444 SCV000945400 pathogenic Hereditary nonpolyposis colorectal neoplasms 2018-08-25 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in MSH2 are known to be pathogenic (PMID: 15849733, 24362816). This variant has not been reported in the literature in individuals with MSH2-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ser825Ilefs*16) in the MSH2 gene. It is expected to result in an absent or disrupted protein product.
Ambry Genetics RCV002442690 SCV002734606 pathogenic Hereditary cancer-predisposing syndrome 2019-04-12 criteria provided, single submitter clinical testing The c.2474delG pathogenic mutation, located in coding exon 15 of the MSH2 gene, results from a deletion of one nucleotide at nucleotide position 2474, causing a translational frameshift with a predicted alternate stop codon (p.S825Ifs*16). 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. RCV003453681 SCV004188104 pathogenic Lynch syndrome 1 2023-08-09 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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