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NM_003977.4(AIP):c.500del (p.Pro167fs) AND Somatotroph adenoma

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV000034085.4

Allele description [Variation Report for NM_003977.4(AIP):c.500del (p.Pro167fs)]

NM_003977.4(AIP):c.500del (p.Pro167fs)

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.500del (p.Pro167fs)
HGVS:
  • NC_000011.10:g.67490069del
  • NG_008969.1:g.12036del
  • NM_001302959.2:c.323del
  • NM_001302960.2:c.500del
  • NM_003977.4:c.500delMANE SELECT
  • NP_001289888.1:p.Pro108fs
  • NP_001289889.1:p.Pro167fs
  • NP_003968.3:p.Pro167fs
  • LRG_460t1:c.500del
  • LRG_460:g.12036del
  • NC_000011.9:g.67257540del
  • NM_003977.2:c.500delC
Protein change:
P108fs
Links:
dbSNP: rs267606557
NCBI 1000 Genomes Browser:
rs267606557
Molecular consequence:
  • NM_001302959.2:c.323del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001302960.2:c.500del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_003977.4:c.500del - 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: 314777; Orphanet: 963; OMIM: 102200

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000058015GeneReviews
no classification provided
not providedunknownliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

AIP Familial Isolated Pituitary Adenomas.

Korbonits M, Kumar AV.

2012 Jun 21 [updated 2020 Apr 16]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

PubMed [citation]
PMID:
22720333

Details of each submission

From GeneReviews, SCV000058015.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownnot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

Last Updated: Aug 5, 2023