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NM_003977.4(AIP):c.40C>T (p.Gln14Ter) AND Somatotroph adenoma

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 26, 2006
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000508640.1

Allele description [Variation Report for NM_003977.4(AIP):c.40C>T (p.Gln14Ter)]

NM_003977.4(AIP):c.40C>T (p.Gln14Ter)

Gene:
AIP:aryl hydrocarbon receptor interacting protein [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q13.2
Genomic location:
Preferred name:
NM_003977.4(AIP):c.40C>T (p.Gln14Ter)
HGVS:
  • NC_000011.10:g.67483198C>T
  • NG_008969.1:g.5165C>T
  • NM_001302960.2:c.40C>T
  • NM_003977.4:c.40C>TMANE SELECT
  • NP_001289889.1:p.Gln14Ter
  • NP_003968.3:p.Gln14Ter
  • LRG_460t1:c.40C>T
  • LRG_460:g.5165C>T
  • LRG_460p1:p.Gln14Ter
  • NC_000011.9:g.67250669C>T
  • NM_003977.2:c.40C>T
Protein change:
Q14*; GLN14TER
Links:
OMIM: 605555.0001; dbSNP: rs104894194
NCBI 1000 Genomes Browser:
rs104894194
Molecular consequence:
  • NM_001302960.2:c.40C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_003977.4:c.40C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Somatotroph adenoma (PITA1)
Synonyms:
ISOLATED FAMILIAL SOMATOTROPINOMA; SOMATOTROPHINOMA, FAMILIAL; Pituitary tumor, growth hormone-secreting, somatic; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007052; MedGen: C4538355; Orphanet: 314777; Orphanet: 963; OMIM: 102200

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000605833OMIM
no assertion criteria provided
Pathogenic
(May 26, 2006) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Pituitary adenoma predisposition caused by germline mutations in the AIP gene.

Vierimaa O, Georgitsi M, Lehtonen R, Vahteristo P, Kokko A, Raitila A, Tuppurainen K, Ebeling TM, Salmela PI, Paschke R, Gündogdu S, De Menis E, Mäkinen MJ, Launonen V, Karhu A, Aaltonen LA.

Science. 2006 May 26;312(5777):1228-30.

PubMed [citation]
PMID:
16728643

Details of each submission

From OMIM, SCV000605833.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In affected individuals from a large Finnish kindred with pituitary adenoma predisposition (PAP; see 102200), Vierimaa et al. (2006) identified a gln14-to-ter (Q14X) substitution in exon 1 of the AIP gene. Five individuals had prolactinomas, 4 had somatotropinomas and 2 had a mixed tumor comprising both cells. The Q14X mutation was also identified in 6 of 45 Finnish patients with acromegaly (PITA1; 102200) from a population-based cohort. Loss of heterozygosity at the AIP locus was observed in all 8 tumor tissues studied.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024