ClinVar Miner

Submissions for variant NM_000038.6(APC):c.2205G>A (p.Ala735=) (rs141001261)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000162793 SCV000213271 likely benign Hereditary cancer-predisposing syndrome 2014-12-19 criteria provided, single submitter clinical testing
Invitae RCV000587002 SCV000252908 likely benign not provided 2019-03-04 criteria provided, single submitter clinical testing
Counsyl RCV000199939 SCV000488961 likely benign Familial adenomatous polyposis 1 2016-07-26 criteria provided, single submitter clinical testing
GeneDx RCV000429527 SCV000512067 benign not specified 2015-03-20 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000429527 SCV000591109 likely benign not specified 2014-04-23 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000429527 SCV000600058 benign not specified 2017-07-13 criteria provided, single submitter clinical testing
Color RCV000162793 SCV000681507 likely benign Hereditary cancer-predisposing syndrome 2016-05-19 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000587002 SCV000694009 benign not provided 2016-06-10 criteria provided, single submitter clinical testing Variant summary: The APC c.2205G>A (p.Ala735Ala) variant causes a synonymous change involving a non-conserved nucleotide with 5/5 in silico prediction tools predicting no significant effect on splicing, although these predictions have yet to be functionally assessed. This variant was observed in the large, broad control population, ExAC, with an allele frequency of 16/120502 (1/7530), predominantly observed in the African subpopulation, 5/10246 (1/2049), which exceeds the estimated maximal expected allele frequency for a pathogenic APC variant of 1/14005 (0.0000714). Therefore, suggesting this is likely a benign polymorphism found primarily in population(s)of African origin. In addition, multiple clinical diagnostic laboratories and a publication classified this variant as Likely Benign. Therefore, taking all available lines of evidence into consideration, the variant of interest is classified as Benign.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000587002 SCV000887508 benign not provided 2017-07-13 criteria provided, single submitter clinical testing

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