ClinVar Miner

Submissions for variant NM_000038.6(APC):c.3462_3464AGA[2] (p.Glu1157del) (rs386833391)

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Total submissions: 16
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000254628 SCV000148993 likely benign not specified 2017-08-18 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 RCV000115084 SCV000172880 benign Hereditary cancer-predisposing syndrome 2014-12-09 criteria provided, single submitter clinical testing
Invitae RCV000034412 SCV000252584 benign not provided 2019-03-06 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000239004 SCV000297019 benign Familial multiple polyposis syndrome 2015-11-30 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000300515 SCV000452006 likely benign APC-Associated Polyposis Disorders 2016-06-14 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000254628 SCV000600082 likely benign not specified 2017-04-14 criteria provided, single submitter clinical testing
Color RCV000115084 SCV000681606 benign Hereditary cancer-predisposing syndrome 2016-03-21 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000034412 SCV000694033 benign not provided 2016-12-05 criteria provided, single submitter clinical testing Variant summary: The APC c.3468_3470delAGA (p.Glu1157del) variant causes deletion of a Glutamic acid in a run of 4 repetitive Glutamic acids. This variant was found in 148/121852 control chromosomes (1 homozygote), predominantly observed in the African subpopulation at a frequency of 0.0130777 (133/10170). This frequency is about 183 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 African origin. The variant of interest has been reported in patients with familial adenomatous polyposis including co-occurrences with other potentially pathogenic variants (Grandval_2014), supporting for the benign outcome. In addition, multiple clinical diagnostic laboratories/reputable databases have classified this variant as likely benign/benign. Taken together, this variant is classified as Benign.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000254628 SCV000703676 benign not specified 2016-11-23 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000254628 SCV000805395 benign not specified 2017-05-30 criteria provided, single submitter clinical testing
Mendelics RCV000144564 SCV000838107 benign Familial adenomatous polyposis 1 2018-07-02 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000034412 SCV000885022 benign not provided 2017-06-07 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000034412 SCV000887523 benign not provided 2018-08-12 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034412 SCV000043122 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.
Pathway Genomics RCV000144564 SCV000189856 likely benign Familial adenomatous polyposis 1 2014-07-24 no assertion criteria provided clinical testing
True Health Diagnostics RCV000115084 SCV000693478 likely benign Hereditary cancer-predisposing syndrome 2017-10-25 no assertion criteria provided clinical testing

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