ClinVar Miner

Submissions for variant NM_000038.6(APC):c.5268T>G (p.Ser1756=)

gnomAD frequency: 0.59230  dbSNP: rs866006
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Total submissions: 18
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000035076 SCV000109826 benign not specified 2016-03-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV000162374 SCV000212684 benign Hereditary cancer-predisposing syndrome 2014-10-24 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.
Preventiongenetics, part of Exact Sciences RCV000035076 SCV000301599 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000359973 SCV000452024 benign APC-Associated Polyposis Disorders 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001536876 SCV000602518 benign not provided 2023-11-29 criteria provided, single submitter clinical testing
Invitae RCV003315554 SCV000647567 benign Familial adenomatous polyposis 1 2024-02-01 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000162374 SCV000681723 benign Hereditary cancer-predisposing syndrome 2016-03-28 criteria provided, single submitter clinical testing
GeneDx RCV001536876 SCV001753688 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003315554 SCV004017461 benign Familial adenomatous polyposis 1 2023-07-07 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000035076 SCV000058716 benign not specified 2008-03-01 no assertion criteria provided clinical testing
Systems Biology Platform Zhejiang California International NanoSystems Institute RCV000074236 SCV000105829 cancer Familial colorectal cancer no assertion criteria provided not provided Converted during submission to other.
Mayo Clinic Laboratories, Mayo Clinic RCV000035076 SCV000257012 benign not specified no assertion criteria provided clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001353960 SCV000591188 benign Carcinoma of colon no assertion criteria provided clinical testing The c.5268T>G, p.Ser1756Ser silent variant, located in exon 16 of APC, is not expected to have clinical significance because it does not alter an amino acid residue, is not located near a splice junction, is listed in dbSNP (rs_id: rs866006) with a heterozygosity freqency of 0.478+/-0.104. Based on the above information, this is a benign variant.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000035076 SCV001739636 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000035076 SCV001921990 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000035076 SCV001952668 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000035076 SCV001974694 benign not specified no assertion criteria provided clinical testing
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C. RCV000162374 SCV002050305 benign Hereditary cancer-predisposing syndrome 2021-12-21 no assertion criteria provided clinical testing

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