ClinVar Miner

Submissions for variant NM_000038.6(APC):c.7514G>A (p.Arg2505Gln) (rs147549623)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000115121 SCV000183935 likely benign Hereditary cancer-predisposing syndrome 2017-07-27 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Co-occurence with mutation in same gene (phase unknown),Does not segregate with disease in family study (genes with incomplete penetrance),Other data supporting benign classification
CeGaT Praxis fuer Humangenetik Tuebingen RCV000589307 SCV000780824 likely benign not provided 2018-02-28 criteria provided, single submitter clinical testing
Color RCV000115121 SCV000681872 likely benign Hereditary cancer-predisposing syndrome 2016-05-20 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000200965 SCV000591211 likely benign not specified 2015-04-17 criteria provided, single submitter clinical testing
GeneDx RCV000200965 SCV000149030 likely benign not specified 2018-02-19 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.
Integrated Genetics/Laboratory Corporation of America RCV000589307 SCV000694119 benign not provided 2016-03-14 criteria provided, single submitter clinical testing Variant summary: The APC c.7514G>A variant affects a conserved nucleotide, resulting in amino acid change from Arg to Gln. 2/4 in-silico tools predict this variant to be benign (SNPs&GO not captured due to low reliability index). This variant was found in 102/125206 control chromosomes (1 homozygote) at a frequency of 0.0008147, which is about 14 times the maximal expected frequency of a pathogenic APC allele (0.0000602), suggesting this variant is benign. Thie variant has been reported in patients with MAP/FAP, CRC or pancreatic cancer. In one CRC family, this variant did not co-segregate with the disease (Zhou_2004), highly suggesting this variant is not causative. In addition, multiple clinical laboratories classified this variant as benign/likely benign. Taken together, this variant was classified as benign.
Invitae RCV000119237 SCV000153984 benign Familial adenomatous polyposis 1 2018-01-05 criteria provided, single submitter clinical testing
PreventionGenetics RCV000589307 SCV000805466 likely benign not provided 2017-02-20 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000200965 SCV000600150 likely benign not specified 2017-05-01 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000589307 SCV000888764 benign not provided 2018-05-31 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000115121 SCV000693491 likely benign Hereditary cancer-predisposing syndrome 2017-07-31 no assertion criteria provided clinical testing

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