ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.354-5C>G (rs200591010)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000212841 SCV000149603 uncertain significance not provided 2018-09-11 criteria provided, single submitter clinical testing This variant is denoted PMS2 c.354-5C>G or IVS4-5C>G and consists of a C>G nucleotide substitution at the -5 position of intron 4 of the PMS2 gene. In silico analyses, which include splice predictors and evolutionary conservation, are inconsistent in their assessment as to whether or not the variant is damaging. PMS2 c.354-5C>G has been observed in at least one individual with colorectal cancer (Yurgelun 2017). This variant was not observed at a significant allele frequency in large population cohorts (Lek 2016). Based on currently available evidence, it is unclear whether PMS2 c.354-5C>G is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Ambry Genetics RCV000115694 SCV000172940 uncertain significance Hereditary cancer-predisposing syndrome 2019-01-31 criteria provided, single submitter clinical testing Insufficient or conflicting evidence;RNA Studies
Invitae RCV001089084 SCV000253300 likely benign Hereditary nonpolyposis colon cancer 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000200031 SCV000469741 uncertain significance Lynch syndrome 2016-06-14 criteria provided, single submitter clinical testing
Color RCV000115694 SCV000911082 likely benign Hereditary cancer-predisposing syndrome 2015-07-20 criteria provided, single submitter clinical testing

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