ClinVar Miner

Submissions for variant NM_000038.6(APC):c.8043G>C (p.Pro2681=) (rs149347068)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163472 SCV000214027 likely benign Hereditary cancer-predisposing syndrome 2015-01-13 criteria provided, single submitter clinical testing
Invitae RCV000200687 SCV000252596 benign Familial adenomatous polyposis 1 2018-01-03 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000371701 SCV000452053 likely benign APC-Associated Polyposis Disorders 2016-06-14 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000507815 SCV000600164 likely benign not specified 2017-02-22 criteria provided, single submitter clinical testing
Color RCV000163472 SCV000681906 benign Hereditary cancer-predisposing syndrome 2016-05-26 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000590536 SCV000694134 benign not provided 2016-03-25 criteria provided, single submitter clinical testing Variant Summary: The c.8043G>C variant involves the alteration of a non-conserved nucleotide resulting in a synonymous change. 3/5 in silico tools via Alamut predict no significant effect on splicing. The variant was observed in the large, broad control population, ExAC with, an allele frequency of 0.025%, primarily observed in the African subpopulation at a frequency of 0.27%. This frequency exceeds the maximum expected allele frequency for a pathogenic APC variant of 0.006%, suggesting this is a benign polymorphism found primarily in the African subpopulation. Multiple reputable clinical labs have classified the variant as likely benign/benign. Taken together, due to the synonymous nature of the variant, the relatively high frequency of the variant in the population, and the lack of predicted effect on splicing, this variant has been classified as Benign.
PreventionGenetics,PreventionGenetics RCV000590536 SCV000805475 likely benign not provided 2017-12-06 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000590536 SCV000888773 benign not provided 2018-04-28 criteria provided, single submitter clinical testing

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