ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1488A>T (p.Thr496=) (rs9282599)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000122758 SCV000166015 benign Familial adenomatous polyposis 1 2018-01-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV000164173 SCV000214791 likely benign Hereditary cancer-predisposing syndrome 2014-07-24 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000318991 SCV000451989 likely benign APC-Associated Polyposis Disorders 2016-06-14 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000508123 SCV000600044 likely benign not specified 2016-11-15 criteria provided, single submitter clinical testing
Color RCV000164173 SCV000681468 benign Hereditary cancer-predisposing syndrome 2016-03-30 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000587584 SCV000693998 benign not provided 2017-06-09 criteria provided, single submitter clinical testing Variant summary: The APC c.1488A>T (p.Thr496Thr) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a damaging outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 55/121488 control chromosomes, predominantly observed in the East Asian subpopulation at a frequency of 0.006028 (52/8626). This frequency is about 84 times the estimated maximal expected allele frequency of a pathogenic APC variant (0.0000714), suggesting this is likely a benign polymorphism found primarily in the populations of East Asian origin. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as likely benign/benign. Taken together, this variant is classified as benign.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000587584 SCV000887507 benign not provided 2018-03-11 criteria provided, single submitter clinical testing

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