NM_003977.4(AIP):c.3_4insC (p.Ala2fs) 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:
RCV000034076.3

Allele description [Variation Report for NM_003977.4(AIP):c.3_4insC (p.Ala2fs)]

NM_003977.4(AIP):c.3_4insC (p.Ala2fs)

Gene:
AIP:aryl hydrocarbon receptor interacting protein [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
11q13.2
Genomic location:
Preferred name:
NM_003977.4(AIP):c.3_4insC (p.Ala2fs)
HGVS:
  • NC_000011.10:g.67483161_67483162insC
  • NG_008969.1:g.5128_5129insC
  • NM_001302960.2:c.3_4insC
  • NM_003977.4:c.3_4insCMANE SELECT
  • NP_001289889.1:p.Ala2fs
  • NP_003968.3:p.Ala2fs
  • LRG_460t1:c.3_4insC
  • LRG_460:g.5128_5129insC
  • NC_000011.9:g.67250632_67250633insC
  • NM_003977.2:c.3_4insC
Protein change:
A2fs
Links:
dbSNP: rs267606547
NCBI 1000 Genomes Browser:
rs267606547
Molecular consequence:
  • NM_001302960.2:c.3_4insC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_003977.4:c.3_4insC - 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
SCV000058006GeneReviewsno 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, SCV000058006.2

#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: Sep 29, 2021

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