NM_003977.4(AIP):c.715C>T (p.Gln239Ter) AND Somatotroph adenoma

Clinical significance: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:
1 submission [Details]
Record status:
current
Accession:
RCV000034098.3

Allele description [Variation Report for NM_003977.4(AIP):c.715C>T (p.Gln239Ter)]

NM_003977.4(AIP):c.715C>T (p.Gln239Ter)

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.715C>T (p.Gln239Ter)
HGVS:
  • NC_000011.10:g.67490385C>T
  • NG_008969.1:g.12352C>T
  • NM_001302959.2:c.538C>T
  • NM_001302960.2:c.715C>T
  • NM_003977.4:c.715C>TMANE SELECT
  • NP_001289888.1:p.Gln180Ter
  • NP_001289889.1:p.Gln239Ter
  • NP_003968.3:p.Gln239Ter
  • LRG_460t1:c.715C>T
  • LRG_460:g.12352C>T
  • NC_000011.9:g.67257856C>T
  • NM_003977.2:c.715C>T
Protein change:
Q180*
Links:
dbSNP: rs267606571
NCBI 1000 Genomes Browser:
rs267606571
Molecular consequence:
  • NM_001302959.2:c.538C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001302960.2:c.715C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_003977.4:c.715C>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: 963; OMIM: 102200

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000058028GeneReviewsno assertion criteria providedprobable-pathogenic
(Jun 21, 2012)
not providedcuration

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot providednot providednot providedcuration

Details of each submission

From GeneReviews, SCV000058028.2

#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: Oct 24, 2021

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