ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.255del (p.Phe85fs)

dbSNP: rs63751158
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001176398 SCV001340374 pathogenic Hereditary cancer-predisposing syndrome 2020-01-15 criteria provided, single submitter clinical testing This variant deletes 1 nucleotide in exon 2 of the MSH2 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of MSH2 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.
Ambry Genetics RCV001176398 SCV002744387 pathogenic Hereditary cancer-predisposing syndrome 2019-06-28 criteria provided, single submitter clinical testing The c.255delT pathogenic mutation, located in coding exon 2 of the MSH2 gene, results from a deletion of one nucleotide at nucleotide position 255, causing a translational frameshift with a predicted alternate stop codon (p.F85Lfs*5). 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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