NM_003977.4(AIP):c.259C>T (p.Gln87Ter) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 3, 2020
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV001390999.5

Allele description [Variation Report for NM_003977.4(AIP):c.259C>T (p.Gln87Ter)]

NM_003977.4(AIP):c.259C>T (p.Gln87Ter)

Genes:

LOC130006206:ATAC-STARR-seq lymphoblastoid active region 5107 [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.259C>T (p.Gln87Ter)

HGVS:

NC_000011.10:g.67487165C>T
NG_008969.1:g.9132C>T
NM_001302959.2:c.82C>T
NM_001302960.2:c.259C>T
NM_003977.4:c.259C>TMANE SELECT
NP_001289888.1:p.Gln28Ter
NP_001289889.1:p.Gln87Ter
NP_003968.3:p.Gln87Ter
LRG_460:g.9132C>T
NC_000011.9:g.67254636C>T

Protein change:

Q28*

Links:

dbSNP: rs2134251305

NCBI 1000 Genomes Browser:

rs2134251305

Molecular consequence:

NM_001302959.2:c.82C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001302960.2:c.259C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_003977.4:c.259C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001592913	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Mar 3, 2020)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 23321498, 26186299, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001592913

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Mar 3, 2020)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

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

Landscape of Familial Isolated and Young-Onset Pituitary Adenomas: Prospective Diagnosis in AIP Mutation Carriers.

Hernández-Ramírez LC, Gabrovska P, Dénes J, Stals K, Trivellin G, Tilley D, Ferrau F, Evanson J, Ellard S, Grossman AB, Roncaroli F, Gadelha MR, Korbonits M; International FIPA Consortium..

J Clin Endocrinol Metab. 2015 Sep;100(9):E1242-54.

PubMed [citation]

PMID:: 26186299
PMCID:: PMC4570169

See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001592913.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in AIP are known to be pathogenic (PMID: 23321498, 26186299). This variant has not been reported in the literature in individuals with AIP-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln87*) in the AIP gene. It is expected to result in an absent or disrupted protein product.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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