ClinVar Miner

Submissions for variant NM_000038.6(APC):c.646-2A>G (rs777848503)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000588727 SCV000694093 likely pathogenic Familial multiple polyposis syndrome 2016-08-08 criteria provided, single submitter clinical testing Variant summary: The APC c.646-2A>G variant involves the alteration of a conserved splice site nucleotide. One in silico tool predicts a damaging outcome for this variant. 5/5 splice prediction tools predict that this variant abolishes a normal splice site. This variant has been reported in at least one FAP patient and one hepatocellular carcinoma sample, and is absent in 112706 control chromosomes. Taken together, this variant is classified as likely pathogenic.

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