ClinVar Miner

Submissions for variant NM_000038.6(APC):c.4905G>A (p.Gly1635=) (rs137988845)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000589457 SCV000166039 benign not provided 2019-02-28 criteria provided, single submitter clinical testing
GeneDx RCV000211918 SCV000167011 benign not specified 2014-02-14 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.
Ambry Genetics RCV000123669 SCV000213025 likely benign Hereditary cancer-predisposing syndrome 2014-10-06 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000296218 SCV000452017 likely benign APC-Associated Polyposis Disorders 2016-06-14 criteria provided, single submitter clinical testing
Counsyl RCV000122782 SCV000487955 likely benign Familial adenomatous polyposis 1 2015-12-18 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000211918 SCV000600107 benign not specified 2017-07-25 criteria provided, single submitter clinical testing
Color RCV000123669 SCV000681694 likely benign Hereditary cancer-predisposing syndrome 2016-05-03 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000589457 SCV000694062 benign not provided 2016-12-16 criteria provided, single submitter clinical testing Variant summary: The APC c.4905G>A (p.Gly1635Gly) 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. 3/5 splice prediction tools predict no significant impact on normal splicing and the variant is cited in UMD as having normal splicing via RT-PCR, without evidence to independently evaluate. This variant was found in 46/121378 control chromosomes at a frequency of 0.000379, which is approximately 5 times the estimated maximal expected allele frequency of a pathogenic APC variant (0.0000714), suggesting this variant is likely a benign polymorphism. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign. The variant was reported in an affected individual in the literature, without strong evidence for causality. Taken together, this variant is classified as benign.
PreventionGenetics,PreventionGenetics RCV000211918 SCV000805416 benign not specified 2017-05-23 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000589457 SCV000887526 benign not provided 2017-07-25 criteria provided, single submitter clinical testing

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