ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.2091_2092del (p.Cys697_Glu698delinsTer)

dbSNP: rs2528944912
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002424047 SCV002730247 pathogenic Hereditary cancer-predisposing syndrome 2020-02-13 criteria provided, single submitter clinical testing The c.2091_2092delTG pathogenic mutation, located in coding exon 13 of the MSH2 gene, results from a deletion of two nucleotides at nucleotide positions 2091 to 2092, causing a translational frameshift with a predicted alternate stop codon (p.C697*). 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.

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