ClinVar Miner

Submissions for variant NM_000038.5(APC):c.8332G>T (p.Ala2778Ser) (rs587778046)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3DMed Clinical Laboratory Inc RCV000677785 SCV000803941 uncertain significance Neoplasm of the liver 2018-05-21 no assertion criteria provided clinical testing
3DMed Clinical Laboratory Inc RCV000677786 SCV000803942 uncertain significance Hepatocellular carcinoma 2018-05-21 no assertion criteria provided clinical testing
3DMed Clinical Laboratory Inc RCV000677787 SCV000803943 uncertain significance Intrahepatic cholangiocarcinoma 2018-05-21 no assertion criteria provided clinical testing
Ambry Genetics RCV000163521 SCV000214079 uncertain significance Hereditary cancer-predisposing syndrome 2017-09-12 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Color RCV000163521 SCV000681920 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-23 criteria provided, single submitter clinical testing
Counsyl RCV000199434 SCV000784916 uncertain significance Familial adenomatous polyposis 1 2017-02-08 criteria provided, single submitter clinical testing
GeneDx RCV000120047 SCV000293586 uncertain significance not specified 2017-09-18 criteria provided, single submitter clinical testing This variant is denoted APC c.8332G>T at the cDNA level, p.Ala2778Ser (A2778S) at the protein level, and results in the change of an Alanine to a Serine (GCT>TCT). This variant was observed in two out of three affected individuals in a familial papillary thyroid cancer kindred (Yu 2015). APC Ala2778Ser was also identified in 1/62 healthy East Asian individuals undergoing whole exome sequencing (Bodian 2014). Of note, the participants in this study were younger than 50 years old thus the unaffected status of this individual may not be significant. APC Ala2778Ser was observed with an allele frequency of 0.2% (20/8650) in individuals of East Asian ancestry in the Exome Aggregation Consortium (ExAC) data set. Since Alanine and Serine differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. APC Ala2778Ser occurs at a position that is conserved across species and is located in the HDLG binding domain (Azzopardi 2008). In silico analyses predict that this variant is probably damaging to protein structure and function. Based on currently available evidence, it is unclear whether APC Ala2778Ser is pathogenic or benign. We consider it to be a variant of uncertain significance.
ITMI RCV000120047 SCV000084181 not provided not specified 2013-09-19 no assertion provided reference population
Invitae RCV000199434 SCV000252939 likely benign Familial adenomatous polyposis 1 2017-12-28 criteria provided, single submitter clinical testing

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