ClinVar Miner

Submissions for variant NM_000038.6(APC):c.7704A>G (p.Gly2568=) (rs35043160)

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Total submissions: 15
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000035083 SCV000058723 benign not specified 2011-03-29 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000035083 SCV000109832 benign not specified 2013-10-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV000128887 SCV000172744 benign Hereditary cancer-predisposing syndrome 2014-11-19 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,PreventionGenetics RCV000035083 SCV000301606 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000364239 SCV000452047 benign APC-Associated Polyposis Disorders 2018-01-13 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.
Invitae RCV000756996 SCV000562618 benign Familial adenomatous polyposis 1 2020-12-06 criteria provided, single submitter clinical testing
Color Health, Inc RCV000128887 SCV000681883 benign Hereditary cancer-predisposing syndrome 2016-03-18 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001282048 SCV000885013 benign none provided 2019-12-26 criteria provided, single submitter clinical testing
GeneDx RCV001650857 SCV001870045 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000756996 SCV000591214 benign Familial adenomatous polyposis 1 no assertion criteria provided clinical testing The p.Gly2568Gly variant is not expected to have clinical significance because it does not result in a change of amino acid and is not located in a known consensus splice site. This variant was not identified in the literature, nor was it identified in the HGMD, UMD or LOVD databases. This variant was reported in dbSNP (ID#rs35043160), in the 1000 Genomes Project with a frequency of 0.027, and in the Exome Variant Server ESP Project with frequencies of 0.0002 in European American alleles and 0.097 in African American alleles, increasing the likelihood that this is a low frequency benign variant in certain populations of origin. In summary, based on the above information, this variant is classified as benign.
Mayo Clinic Laboratories, Mayo Clinic RCV000035083 SCV000691767 benign not specified no assertion criteria provided clinical testing
True Health Diagnostics RCV000128887 SCV000693493 likely benign Hereditary cancer-predisposing syndrome 2017-10-25 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000035083 SCV001808471 benign not specified no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV000035083 SCV001919055 benign not specified no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000035083 SCV001954299 benign not specified no assertion criteria provided clinical testing

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