Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000076315 | SCV000107336 | pathogenic | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Coding sequence variation introducing premature termination codon |
Color Diagnostics, |
RCV001180332 | SCV001345239 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-01-15 | criteria provided, single submitter | clinical testing | This variant deletes 4 nucleotides in exon 12 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. |
Invitae | RCV001380771 | SCV001578929 | pathogenic | Hereditary nonpolyposis colorectal neoplasms | 2020-09-10 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gly630Glufs*4) in the MSH2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with colorectal, breast or prostate cancer (PMID: 16616355, 25117503, 20215533). This variant is also known as c.1957delGAAG or c.1886_1889delAAGG in the literature. ClinVar contains an entry for this variant (Variation ID: 90813). Loss-of-function variants in MSH2 are known to be pathogenic (PMID: 15849733, 24362816). For these reasons, this variant has been classified as Pathogenic. |