NM_003977.4(AIP):c.2T>C (p.Met1Thr) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 24, 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:: RCV003556103.2

Allele description [Variation Report for NM_003977.4(AIP):c.2T>C (p.Met1Thr)]

NM_003977.4(AIP):c.2T>C (p.Met1Thr)

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.2T>C (p.Met1Thr)

HGVS:

NC_000011.10:g.67483160T>C
NG_008969.1:g.5127T>C
NM_001302960.2:c.2T>C
NM_003977.4:c.2T>CMANE SELECT
NP_001289889.1:p.Met1Thr
NP_003968.3:p.Met1Thr
LRG_460t1:c.2T>C
LRG_460:g.5127T>C
NC_000011.9:g.67250631T>C
NM_003977.2:c.2T>C

Protein change:

M1T

Links:

dbSNP: rs267606546

NCBI 1000 Genomes Browser:

rs267606546

Molecular consequence:

NM_001302960.2:c.2T>C - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_003977.4:c.2T>C - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_001302960.2:c.2T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_003977.4:c.2T>C - missense variant - [Sequence Ontology: SO:0001583]

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
SCV004294883	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Feb 24, 2023)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 21546764, 26186299, 26792934, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004294883

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Feb 24, 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

Clinical features and treatment of pediatric somatotropinoma: case study of an aggressive tumor due to a new AIP mutation and extensive literature review.

Personnier C, Cazabat L, Bertherat J, Gaillard S, Souberbielle JC, Habrand JL, Dufour C, Clauser E, SainteRose C, Polak M.

Horm Res Paediatr. 2011;75(6):392-402. doi: 10.1159/000327831. Epub 2011 May 6. Review.

PubMed [citation]

PMID:: 21546764

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, SCV004294883.1

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

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. ClinVar contains an entry for this variant (Variation ID: 41173). Disruption of the initiator codon has been observed in individual(s) with pituitary adenoma (PMID: 21546764, 26186299, 26792934). This variant is not present in population databases (gnomAD no frequency). This sequence change affects the initiator methionine of the AIP mRNA. The next in-frame methionine is located at codon 60.

#	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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