ClinVar Miner

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

dbSNP: rs386833391
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Total submissions: 23
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000034412 SCV000148993 benign not provided 2018-03-29 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 22703879, 21488257, 24599579, 27153395, 24345752, 24113346, 29367705)
Ambry Genetics RCV000115084 SCV000172880 benign Hereditary cancer-predisposing syndrome 2014-12-09 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV000144564 SCV000252584 benign Familial adenomatous polyposis 1 2024-02-01 criteria provided, single submitter clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000239004 SCV000297019 benign Familial multiple polyposis syndrome 2015-11-30 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000300515 SCV000452006 likely benign APC-Associated Polyposis Disorders 2016-06-14 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000115084 SCV000681606 benign Hereditary cancer-predisposing syndrome 2016-03-21 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 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.
Eurofins Ntd Llc (ga) RCV000254628 SCV000703676 benign not specified 2016-11-23 criteria provided, single submitter clinical testing
Preventiongenetics, part of Exact Sciences 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 2023-06-19 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000034412 SCV000887523 benign not provided 2022-10-21 criteria provided, single submitter clinical testing
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV000144564 SCV001775520 benign Familial adenomatous polyposis 1 2021-08-02 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000254628 SCV002069700 benign not specified 2020-08-31 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000115084 SCV002533747 benign Hereditary cancer-predisposing syndrome 2020-08-11 criteria provided, single submitter curation
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C. RCV000115084 SCV004014987 benign Hereditary cancer-predisposing syndrome 2023-05-16 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000254628 SCV004025054 likely benign not specified 2023-08-15 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
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000254628 SCV001807977 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000034412 SCV001924114 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000254628 SCV001927045 benign not specified no assertion criteria provided clinical testing

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