ClinVar Miner

Submissions for variant NM_003977.4(AIP):c.40C>T (p.Gln14Ter) (rs104894194)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001021869 SCV001183538 pathogenic Hereditary cancer-predisposing syndrome 2019-09-25 criteria provided, single submitter clinical testing The p.Q14* pathogenic mutation (also known as c.40C>T), located in coding exon 1 of the AIP gene, results from a C to T substitution at nucleotide position 40. This changes the amino acid from a glutamine to a stop codon within coding exon 1. This mutation has been reported in multiple individuals, predominantly of Finnish descent, with familial isolated pituitary adenomas (Vierimaa O et al. Science 2006 May;312(5777):1228-30; Georgitsi M et al. Proc. Natl. Acad. Sci. U.S.A. 2007 Mar;104(10):4101-5; Beckers A et al. Endocr. Rev. 2013 Apr;34(2):239-77). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
OMIM RCV000005163 SCV000025340 pathogenic Pituitary adenoma predisposition 2006-05-26 no assertion criteria provided literature only
OMIM RCV000508640 SCV000605833 pathogenic Somatotroph adenoma 2006-05-26 no assertion criteria provided literature only

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