NM_003977.4(AIP):c.469-1G>A AND Somatotroph adenoma

Clinical significance:Pathogenic/Likely pathogenic (Last evaluated: Jun 21, 2012)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000005165.8

Allele description [Variation Report for NM_003977.4(AIP):c.469-1G>A]

NM_003977.4(AIP):c.469-1G>A

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.469-1G>A
HGVS:
  • NC_000011.10:g.67490037G>A
  • NG_008969.1:g.12004G>A
  • NM_001302959.1:c.292-1G>A
  • NM_001302960.2:c.469-1G>A
  • NM_003977.4:c.469-1G>AMANE SELECT
  • LRG_460t1:c.469-1G>A
  • LRG_460:g.12004G>A
  • NC_000011.9:g.67257508G>A
  • NM_003977.2:c.469-1G>A
Nucleotide change:
IVS3AS, G-A, -1
Links:
OMIM: 605555.0002; dbSNP: rs267606555
NCBI 1000 Genomes Browser:
rs267606555
Molecular consequence:
  • NM_001302959.1:c.292-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001302960.2:c.469-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_003977.4:c.469-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]

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: 963; OMIM: 102200

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000025342OMIMno assertion criteria providedPathogenic
(May 26, 2006)
germlineliterature only

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

SCV000055838GeneReviewsno assertion criteria providedprobable-pathogenic
(Jun 21, 2012)
not providedcuration

Summary from all submissions

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

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, SCV000025342.3

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

Description

In a Finnish patient with acromegaly and pituitary adenoma (PITA1; 102200), Vierimaa et al. (2006) identified a G-to-A substitution in intron 3 of the AIP gene, affecting the splice acceptor site of exon 4.

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

From GeneReviews, SCV000055838.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Converted during submission to Likely pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

Last Updated: Sep 29, 2021

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