NM_003977.4(AIP):c.543del (p.Ile182fs) 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:
RCV000005169.8

Allele description [Variation Report for NM_003977.4(AIP):c.543del (p.Ile182fs)]

NM_003977.4(AIP):c.543del (p.Ile182fs)

Gene:
AIP:aryl hydrocarbon receptor interacting protein [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
11q13.2
Genomic location:
Preferred name:
NM_003977.4(AIP):c.543del (p.Ile182fs)
HGVS:
  • NC_000011.10:g.67490112del
  • NG_008969.1:g.12079del
  • NM_001302959.1:c.366del
  • NM_001302960.2:c.543del
  • NM_003977.4:c.543delMANE SELECT
  • NP_001289888.1:p.Ile123fs
  • NP_001289889.1:p.Ile182fs
  • NP_003968.3:p.Ile182fs
  • LRG_460t1:c.542del
  • LRG_460:g.12079del
  • LRG_460p1:p.Leu181=fs
  • NC_000011.9:g.67257583del
  • NM_003977.2:c.542delT
Protein change:
I123fs
Links:
OMIM: 605555.0006; dbSNP: rs267606559
NCBI 1000 Genomes Browser:
rs267606559
Molecular consequence:
  • NM_001302959.1:c.366del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001302960.2:c.543del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_003977.4:c.543del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000025346OMIMno assertion criteria providedPathogenic
(Mar 6, 2007)
germlineliterature only

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

SCV000055839GeneReviewsno 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

Molecular diagnosis of pituitary adenoma predisposition caused by aryl hydrocarbon receptor-interacting protein gene mutations.

Georgitsi M, Raitila A, Karhu A, Tuppurainen K, Mäkinen MJ, Vierimaa O, Paschke R, Saeger W, van der Luijt RB, Sane T, Robledo M, De Menis E, Weil RJ, Wasik A, Zielinski G, Lucewicz O, Lubinski J, Launonen V, Vahteristo P, Aaltonen LA.

Proc Natl Acad Sci U S A. 2007 Mar 6;104(10):4101-5. Epub 2007 Feb 28.

PubMed [citation]
PMID:
17360484
PMCID:
PMC1820715

Details of each submission

From OMIM, SCV000025346.3

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

Description

In an 18-year-old man from Spain with acromegaly secondary to a pituitary adenoma (PITA1; 102200), Georgitsi et al. (2007) identified a heterozygous 1-bp deletion (542delT) in exon 4 of the AIP gene. He had a family history of acromegaly.

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

From GeneReviews, SCV000055839.1

#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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