ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.2393_2396del (p.Asn798fs)

dbSNP: rs1114167826
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000491446 SCV000580489 pathogenic Hereditary cancer-predisposing syndrome 2016-05-09 criteria provided, single submitter clinical testing The c.2393_2396delATAA pathogenic mutation, located in coding exon 14 of the MSH2 gene, results from a deletion of 4 nucleotides at nucleotide positions 2393 to 2396, causing a translational frameshift with a predicted alternate stop codon (p.N798Ifs*13). 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001856945 SCV002228685 pathogenic Hereditary nonpolyposis colorectal neoplasms 2020-12-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with MSH2-related conditions. ClinVar contains an entry for this variant (Variation ID: 428481). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Asn798Ilefs*13) in the MSH2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MSH2 are known to be pathogenic (PMID: 15849733, 24362816).
Myriad Genetics, Inc. RCV003449352 SCV004188946 pathogenic Lynch syndrome 1 2023-08-08 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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