Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

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

Help
Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Mar 12, 2020
Accession:
VCV000041196.3
Variation ID:
41196
Description:
single nucleotide variant
Help

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

Allele ID
49618
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q13.2
Genomic location
11: 67483228 (GRCh38) GRCh38 UCSC
11: 67250699 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_460t1:c.70G>T
LRG_460:g.5195G>T
NC_000011.10:g.67483228G>T
... more HGVS
Protein change
E24*
Other names
-
Canonical SPDI
NC_000011.10:67483227:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA344151
dbSNP: rs267606568
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Mar 12, 2020 RCV001390426.1
Likely pathogenic 1 no assertion criteria provided Jun 21, 2012 RCV000034095.3
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
AIP - - GRCh38
GRCh37
375 392

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Mar 12, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001592158.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (3)
Comment:
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 … (more)
probable-pathogenic
(Jun 21, 2012)
no assertion criteria provided
Method: curation
AIP-Related Familial Isolated Pituitary Adenomas
Allele origin: not provided
GeneReviews
Accession: SCV000058025.2
Submitted: (Mar 26, 2013)
Evidence details
Comment:
Converted during submission to Likely pathogenic.

Functional evidence

Help
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

Help
Title Author Journal Year Link
<i>AIP</i> Familial Isolated Pituitary Adenomas Korbonits M - 2020 PMID: 22720333
Landscape of Familial Isolated and Young-Onset Pituitary Adenomas: Prospective Diagnosis in AIP Mutation Carriers. Hernández-Ramírez LC The Journal of clinical endocrinology and metabolism 2015 PMID: 26186299
Genetic analysis in young patients with sporadic pituitary macroadenomas: besides AIP don't forget MEN1 genetic analysis. Cuny T European journal of endocrinology 2013 PMID: 23321498
The role of the aryl hydrocarbon receptor-interacting protein gene in familial and sporadic pituitary adenomas. Leontiou CA The Journal of clinical endocrinology and metabolism 2008 PMID: 18381572

Text-mined citations for rs267606568...

Help
These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Sep 29, 2021