ClinVar Miner

Submissions for variant NM_000038.6(APC):c.2701C>T (p.Gln901Ter)

dbSNP: rs1114167559
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000491829 SCV000579823 pathogenic Hereditary cancer-predisposing syndrome 2014-07-08 criteria provided, single submitter clinical testing The p.Q901* pathogenic mutation (also known as c.2701C>T) located in coding exon 15 of the APC gene, results from a C to T substitution at nucleotide position 2701. This changes the amino acid from a glutamine to a stop codon within coding exon 15. This pathogenic mutation has been reported in a Greek individual diagnosed with FAP at age 28 (Fostira F et al. BMC Cancer. 2010 Jul 22;10:389). In addition to the clinical data presented in the literature, since premature stop codons are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).
Myriad Genetics, Inc. RCV003335383 SCV004044143 pathogenic Familial adenomatous polyposis 1 2023-05-05 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.

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