ClinVar Miner

Submissions for variant NM_000038.6(APC):c.508_509del (p.Ile169_Asp170insTer)

dbSNP: rs886039642
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255777 SCV000322571 likely pathogenic not provided 2017-03-10 criteria provided, single submitter clinical testing This apparently mosaic deletion of two nucleotides is denoted APC c.508_509delGA at the cDNA leveland p.Asp170Ter (D170X) at the protein level. The normal sequence, with the bases that are deleted in braces, isAATA{GA}TAGT. The deletion creates a nonsense variant, which changes an Aspartic Acid to a premature stop codon.Although this variant has not been previously reported to our knowledge, it is predicted to cause loss of normal proteinfunction through either protein truncation or nonsense-mediated mRNA decay, and is considered likely pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV004563294 SCV000822771 pathogenic Familial adenomatous polyposis 1 2018-03-05 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in APC are known to be pathogenic (PMID: 17963004, 20685668). This variant has been reported in an individual affected with familial adenomatous polyposis and papillary thyroid carcinoma (PMID: 27623068). ClinVar contains an entry for this variant (Variation ID: 265581). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Asp170*) in the APC gene. It is expected to result in an absent or disrupted protein product.

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