ClinVar Miner

Submissions for variant NM_000038.6(APC):c.3049_3051del (p.Asn1017del) (rs730881229)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000679054 SCV000209474 uncertain significance not provided 2017-07-31 criteria provided, single submitter clinical testing This deletion of 3 nucleotides in APC is denoted c.3049_3051delAAT at the cDNA level and p.Asn1017del at the protein level. The normal sequence, with the bases that are deleted in brackets, is TGAT[AAT]GATG. This in frame deletion of a single Asparagine residue occurs at a position that is conserved through mammals and is not located in a known functional domain (Azzopardi 2008). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. Since in frame deletions may or may not inhibit proper protein functioning, the clinical significance of this finding remains unclear at this time and we consider APC Asn1017del to be a variant of uncertain significance.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000159518 SCV000600073 uncertain significance not specified 2017-04-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000569152 SCV000667240 uncertain significance Hereditary cancer-predisposing syndrome 2017-05-26 criteria provided, single submitter clinical testing
Color RCV000569152 SCV000681575 uncertain significance Hereditary cancer-predisposing syndrome 2018-09-04 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000679054 SCV000805387 uncertain significance not provided 2017-01-12 criteria provided, single submitter clinical testing
Invitae RCV000707169 SCV000836254 uncertain significance Familial adenomatous polyposis 1 2018-01-22 criteria provided, single submitter clinical testing This variant, c.3049_3051delAAT, results in the deletion of 1 amino acid of the APC protein (p.Asn1017del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs773578423, ExAC 0.009%). This variant has not been reported in the literature in individuals with APC-related disease. ClinVar contains an entry for this variant (Variation ID: 181776). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acid is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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