ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.1387-5T>C (rs757458333)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000229877 SCV000284109 likely benign Hereditary nonpolyposis colorectal neoplasms 2020-10-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV000574158 SCV000669728 uncertain significance Hereditary cancer-predisposing syndrome 2016-11-21 criteria provided, single submitter clinical testing The c.1387-5T>C intronic variant results from a T to C substitution 5 nucleotides upstream from coding exon 9 in the MSH2 gene. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples (13006 alleles) with coverage at this position. To date, this alteration has been detected with an allele frequency of approximately 0.001% (greater than 150000 alleles tested) in our clinical cohort. This nucleotide position is well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is not predicted to have any significant effect on this splice acceptor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV000604134 SCV000718479 likely benign not specified 2017-04-13 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Color Health, Inc RCV000574158 SCV001345413 likely benign Hereditary cancer-predisposing syndrome 2019-01-04 criteria provided, single submitter clinical testing

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