ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.1760-4A>G (rs1060504409)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000460618 SCV000559173 likely benign not provided 2016-12-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV000575107 SCV000664845 uncertain significance Hereditary cancer-predisposing syndrome 2016-02-01 criteria provided, single submitter clinical testing The c.1760-4A>G intronic variant results from an A to G substitution 4 nucleotides upstream from coding exon 12 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 115000alleles 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 alterationremains unclear.
Color Health, Inc RCV000575107 SCV000684971 likely benign Hereditary cancer-predisposing syndrome 2016-10-06 criteria provided, single submitter clinical testing
Invitae RCV001498789 SCV001703542 likely benign Hereditary nonpolyposis colorectal neoplasms 2020-03-12 criteria provided, single submitter clinical testing

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