ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1312+2T>C

dbSNP: rs1114167579
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000491912 SCV000579872 pathogenic Hereditary cancer-predisposing syndrome 2017-07-27 criteria provided, single submitter clinical testing The c.1312+2T>C intronic pathogenic mutation results from a T to C substitution two nucleotides after coding exon 9 in the APC gene. This nucleotide position is highly conserved in available vertebrate species. This mutation has been reported in a German family with FAP/AFAP (Friedl W and Aretz S. Hered Cancer Clin Pract 2005;3(3):95-114). Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to abolish the native splice donor site; however, direct evidence is unavailable. In addition to the clinical data presented in the literature, alterations that disrupt the canonical splice site are expected to cause aberrant splicing, resulting in an abnormal protein or a transcript that is subject to nonsense-mediated mRNA decay. As such, this alteration is classified as a disease-causing mutation.

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