ClinVar Miner

Submissions for variant NM_000038.6(APC):c.8389A>G (p.Ser2797Gly) (rs147287751)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129949 SCV000184772 likely benign Hereditary cancer-predisposing syndrome 2018-11-16 criteria provided, single submitter clinical testing In silico models in agreement (benign);No disease association in appropriately sized case-control study(ies);Other data supporting benign classification
Invitae RCV000198030 SCV000254049 likely benign Familial adenomatous polyposis 1 2019-12-27 criteria provided, single submitter clinical testing
GeneDx RCV000656753 SCV000292468 uncertain significance not provided 2018-03-13 criteria provided, single submitter clinical testing This variant is denoted APC c.8389A>G at the cDNA level, p.Ser2797Gly (S2797G) at the protein level, and results in the change of a Serine to a Glycine (AGC>GGC). This variant has been reported in individuals with breast cancer (Tung 2015, Dominguez-Valentin 2017) APC Ser2797Gly was observed at an allele frequency of 0.015% (18/122,528) in individuals of European ancestry in large population cohorts (Lek 2016). APC Ser2797Gly is located in the hDLG binding domain (Azzopardi 2008). In-silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function. Based on currently available evidence, it is unclear whether APC Ser2797Gly is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Illumina Clinical Services Laboratory,Illumina RCV000283075 SCV000452057 uncertain significance APC-Associated Polyposis Disorders 2016-06-14 criteria provided, single submitter clinical testing
Counsyl RCV000198030 SCV000488295 uncertain significance Familial adenomatous polyposis 1 2016-02-19 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000656753 SCV000600167 uncertain significance not provided 2019-04-18 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000515282 SCV000611342 uncertain significance Desmoid disease, hereditary; Carcinoma of colon; Familial adenomatous polyposis 1; Neoplasm of stomach; Hepatocellular carcinoma 2017-05-23 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000656753 SCV000805481 uncertain significance not provided 2017-06-15 criteria provided, single submitter clinical testing
Mendelics RCV000198030 SCV000838162 uncertain significance Familial adenomatous polyposis 1 2018-07-02 criteria provided, single submitter clinical testing
Color RCV000129949 SCV000902847 likely benign Hereditary cancer-predisposing syndrome 2016-11-22 criteria provided, single submitter clinical testing

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