NM_003977.4(AIP):c.40C>T (p.Gln14Ter) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 31, 2023
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:: RCV003555921.2

Allele description [Variation Report for NM_003977.4(AIP):c.40C>T (p.Gln14Ter)]

NM_003977.4(AIP):c.40C>T (p.Gln14Ter)

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.40C>T (p.Gln14Ter)

HGVS:

NC_000011.10:g.67483198C>T
NG_008969.1:g.5165C>T
NM_001302960.2:c.40C>T
NM_003977.4:c.40C>TMANE SELECT
NP_001289889.1:p.Gln14Ter
NP_003968.3:p.Gln14Ter
LRG_460t1:c.40C>T
LRG_460:g.5165C>T
LRG_460p1:p.Gln14Ter
NC_000011.9:g.67250669C>T
NM_003977.2:c.40C>T

Protein change:

Q14*; GLN14TER

Links:

OMIM: 605555.0001; dbSNP: rs104894194

NCBI 1000 Genomes Browser:

rs104894194

Molecular consequence:

NM_001302960.2:c.40C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_003977.4:c.40C>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
SCV004294884	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Jan 31, 2023)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 23321498, 26186299, 16728643, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004294884

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Jan 31, 2023)

germline

clinical testing

PubMed (4)
[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 (4)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004294884.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

Description

This sequence change creates a premature translational stop signal (p.Gln14*) in the AIP gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in AIP are known to be pathogenic (PMID: 23321498, 26186299). This variant is present in population databases (rs104894194, gnomAD 0.03%). This premature translational stop signal has been observed in individual(s) with pituitary adenoma (PMID: 16728643). ClinVar contains an entry for this variant (Variation ID: 4886). For these reasons, this variant has been classified as Pathogenic.

#	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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