ClinVar Miner

Submissions for variant NM_000038.6(APC):c.5496T>C (p.Asp1832=)

dbSNP: rs1561600562
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001190271 SCV001357728 likely benign Hereditary cancer-predisposing syndrome 2018-11-26 criteria provided, single submitter clinical testing
Invitae RCV002235669 SCV001659326 likely benign Familial adenomatous polyposis 1 2023-10-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV001190271 SCV003895447 likely benign Hereditary cancer-predisposing syndrome 2022-12-29 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001356626 SCV001551846 uncertain significance Familial adenomatous polyposis 1 no assertion criteria provided clinical testing The APC p.Asp1832= variant was not identified in the literature nor was it identified in dbSNP, ClinVar, GeneInsight-COGR, Cosmic, MutDB, LOVD 3.0, UMD-LSDB, and the Zhejiang Colon Cancer Database. The variant was identified in control databases in 1 of 245644 chromosomes at a frequency of 0.000004 (Genome Aggregation Database Feb 27, 2017), in European Non-Finnish population in 1 of 111186 chromosomes (freq: 0.000009), while not observed in the African, Other, Latino, Ashkenazi Jewish, East Asian, European Finnish, and South Asian populations. The p.Asp1832= 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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