NM_003977.4(AIP):c.70G>T (p.Glu24Ter) AND not provided

Clinical significance:Pathogenic (Last evaluated: Mar 12, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001390426.1

Allele description [Variation Report for NM_003977.4(AIP):c.70G>T (p.Glu24Ter)]

NM_003977.4(AIP):c.70G>T (p.Glu24Ter)

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.70G>T (p.Glu24Ter)
HGVS:
  • NC_000011.10:g.67483228G>T
  • NG_008969.1:g.5195G>T
  • NM_001302960.2:c.70G>T
  • NM_003977.4:c.70G>TMANE SELECT
  • NP_001289889.1:p.Glu24Ter
  • NP_003968.3:p.Glu24Ter
  • LRG_460t1:c.70G>T
  • LRG_460:g.5195G>T
  • NC_000011.9:g.67250699G>T
  • NM_003977.2:c.70G>T
Protein change:
E24*
Links:
dbSNP: rs267606568
NCBI 1000 Genomes Browser:
rs267606568
Molecular consequence:
  • NM_001302960.2:c.70G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_003977.4:c.70G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Identifiers:
MedGen: CN517202

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001592158Invitaecriteria provided, single submitter
Pathogenic
(Mar 12, 2020)
germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

The role of the aryl hydrocarbon receptor-interacting protein gene in familial and sporadic pituitary adenomas.

Leontiou CA, Gueorguiev M, van der Spuy J, Quinton R, Lolli F, Hassan S, Chahal HS, Igreja SC, Jordan S, Rowe J, Stolbrink M, Christian HC, Wray J, Bishop-Bailey D, Berney DM, Wass JA, Popovic V, Ribeiro-Oliveira A Jr, Gadelha MR, Monson JP, Akker SA, Davis JR, et al.

J Clin Endocrinol Metab. 2008 Jun;93(6):2390-401. doi: 10.1210/jc.2007-2611. Epub 2008 Apr 1.

PubMed [citation]
PMID:
18381572

Genetic analysis in young patients with sporadic pituitary macroadenomas: besides AIP don't forget MEN1 genetic analysis.

Cuny T, Pertuit M, Sahnoun-Fathallah M, Daly A, Occhi G, Odou MF, Tabarin A, Nunes ML, Delemer B, Rohmer V, Desailloud R, Kerlan V, Chabre O, Sadoul JL, Cogne M, Caron P, Cortet-Rudelli C, Lienhardt A, Raingeard I, Guedj AM, Brue T, Beckers A, et al.

Eur J Endocrinol. 2013 Mar 15;168(4):533-41. doi: 10.1530/EJE-12-0763. Print 2013 Apr.

PubMed [citation]
PMID:
23321498
See all PubMed Citations (4)

Details of each submission

From Invitae, SCV001592158.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

This sequence change creates a premature translational stop signal (p.Glu24*) in the AIP gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with pituitary adenoma (PMID: 18381572). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 41196). Loss-of-function variants in AIP are known to be pathogenic (PMID: 23321498, 26186299). For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Sep 29, 2021

Support Center