ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.2539_2542del (p.Lys847fs)

dbSNP: rs1667496297
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001812992 SCV001472860 pathogenic not provided 2020-08-21 criteria provided, single submitter clinical testing The MSH2 c.2539_2542delAAAG; p.Lys847fs variant, to our knowledge, is not reported in the medical literature but is reported in the SITHER database (see link). This variant is absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. This variant causes a frameshift by deleting 4 nucleotides, so it is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Based on available information, this variant is considered to be pathogenic. References Link to SITHER database for p.Lys847fs: http://www.inc.gob.ar/sither/variants/0000000040#00000004
Ambry Genetics RCV002430072 SCV002742443 pathogenic Hereditary cancer-predisposing syndrome 2017-07-03 criteria provided, single submitter clinical testing The c.2539_2542delAAAG pathogenic mutation, located in coding exon 15 of the MSH2 gene, results from a deletion of 4 nucleotides at nucleotide positions 2539 to 2542, causing a translational frameshift with a predicted alternate stop codon (p.K847Pfs*44). This alteration is expected to result in loss of function by premature protein truncation. As such, this alteration is interpreted as a disease-causing mutation.

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