ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.1581C>T (p.Ala527=) (rs781593101)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163217 SCV000213740 likely benign Hereditary cancer-predisposing syndrome 2014-06-30 criteria provided, single submitter clinical testing
Invitae RCV000474482 SCV000561002 likely benign not provided 2018-08-11 criteria provided, single submitter clinical testing
Color RCV000163217 SCV000913569 likely benign Hereditary cancer-predisposing syndrome 2018-05-29 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000781301 SCV000919220 likely benign not specified 2018-03-28 criteria provided, single submitter clinical testing Variant summary: CHEK2 c.1581C>T alters a non-conserved nucleotide resulting in a synonymous change. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 4.2e-05 in 260066 control chromosomes. This frequency is not higher than expected for a pathogenic variant in CHEK2 causing Breast Cancer (4.2e-05 vs 0.00031), allowing no conclusion about variant significance. To our knowledge, no occurrence of c.1581C>T in individuals affected with Breast Cancer and no experimental evidence demonstrating its impact on protein function have been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as likely benign. In addition, Tavor_2011 reports the variant as "Polymorphism" identified in pt with non-Hodgkins lymphoma. Based on the evidence outlined above, the variant was classified as likely benign.

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