ClinVar Miner

Submissions for variant NM_000038.6(APC):c.5931A>G (p.Gln1977=) (rs975299630)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000551869 SCV000647615 uncertain significance Familial adenomatous polyposis 1 2019-10-20 criteria provided, single submitter clinical testing This sequence change affects codon 1977 of the APC mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the APC protein. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with an APC-related disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a novel silent change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.
Color Health, Inc RCV000772159 SCV000905273 uncertain significance Hereditary cancer-predisposing syndrome 2019-02-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV000772159 SCV001186761 likely benign Hereditary cancer-predisposing syndrome 2019-04-05 criteria provided, single submitter clinical testing In silico models in agreement (benign);Synonymous alterations with insufficient evidence to classify as benign
Department of Pathology and Laboratory Medicine,Sinai Health System RCV001356224 SCV001551338 uncertain significance Carcinoma of colon no assertion criteria provided clinical testing The APC p.Gln1977= variant was not identified in the literature nor was it identified in the dbSBP, ClinVar, Cosmic, MutDB, LOVD 3.0, UMD-LSDB, Zhejiang Colon Cancer databases. The variant was not identified in the 1000 Genomes Project, the NHLBI GO Exome Sequencing Project or the Exome Aggregation Consortium (August 8th 2016) control databases. The p.Gln1977= 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. In addition, in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, HumanSpliceFinder) do not predict a difference in splicing. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of uncertain significance.

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