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NM_003977.4(AIP):c.383G>A (p.Arg128His)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 1, 2020
Accession:
VCV000041176.6
Variation ID:
41176
Description:
single nucleotide variant
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NM_003977.4(AIP):c.383G>A (p.Arg128His)

Allele ID
49598
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q13.2
Genomic location
11: 67489370 (GRCh38) GRCh38 UCSC
11: 67256841 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_460t1:c.383G>A
LRG_460:g.11337G>A
NC_000011.10:g.67489370G>A
... more HGVS
Protein change
R128H, R69H
Other names
-
Canonical SPDI
NC_000011.10:67489369:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00003
The Genome Aggregation Database (gnomAD), exomes 0.00002
Exome Aggregation Consortium (ExAC) 0.00002
Links
ClinGen: CA344099
dbSNP: rs267606550
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter May 31, 2018 RCV001021265.1
Uncertain significance 1 criteria provided, single submitter Oct 1, 2020 RCV001052633.2
Likely benign 1 no assertion criteria provided Jun 21, 2012 RCV000034075.3
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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

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(May 31, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV001182857.2
Submitted: (Nov 30, 2020)
Evidence details
Publications
PubMed (3)
Comment:
Other strong data supporting benign classification
Uncertain significance
(Oct 01, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001216854.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces arginine with histidine at codon 128 of the AIP protein (p.Arg128His). The arginine residue is weakly conserved and there is a … (more)
probable-non-pathogenic
(Jun 21, 2012)
no assertion criteria provided
Method: curation
AIP-Related Familial Isolated Pituitary Adenomas
Allele origin: not provided
GeneReviews
Accession: SCV000058005.2
Submitted: (Mar 26, 2013)
Evidence details
Comment:
Converted during submission to Likely benign.

Functional evidence

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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

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Title Author Journal Year Link
<i>AIP</i> Familial Isolated Pituitary Adenomas Korbonits M - 2020 PMID: 22720333
<i>AIP</i> mutations in Brazilian patients with sporadic pituitary adenomas: a single-center evaluation. Araujo PB Endocrine connections 2017 PMID: 29074612
High prevalence of AIP gene mutations following focused screening in young patients with sporadic pituitary macroadenomas. Tichomirowa MA European journal of endocrinology 2011 PMID: 21753072
Expression of aryl hydrocarbon receptor (AHR) and AHR-interacting protein in pituitary adenomas: pathological and clinical implications. Jaffrain-Rea ML Endocrine-related cancer 2009 PMID: 19556287

Text-mined citations for rs267606550...

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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