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NM_003977.4(AIP):c.379A>G (p.Met127Val)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Nov 30, 2020)
Last evaluated:
Apr 5, 2019
Accession:
VCV000824229.3
Variation ID:
824229
Description:
single nucleotide variant
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NM_003977.4(AIP):c.379A>G (p.Met127Val)

Allele ID
810887
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q13.2
Genomic location
11: 67489366 (GRCh38) GRCh38 UCSC
11: 67256837 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_460:g.11333A>G
LRG_460t1:c.379A>G
NC_000011.10:g.67489366A>G
... more HGVS
Protein change
M127V, M68V
Other names
-
Canonical SPDI
NC_000011.10:67489365:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1591044815
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Apr 5, 2019 RCV001021172.1
Uncertain significance 1 criteria provided, single submitter Apr 28, 2017 RCV001102836.1
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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
378 395

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Apr 28, 2017)
criteria provided, single submitter
Method: clinical testing
Somatotroph adenoma
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001259528.1
Submitted: (Feb 20, 2020)
Evidence details
Publications
PubMed (1)
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
Uncertain significance
(Apr 05, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV001182753.2
Submitted: (Nov 30, 2020)
Evidence details
Comment:
The p.M127V variant (also known as c.379A>G), located in coding exon 3 of the AIP gene, results from an A to G substitution at nucleotide … (more)

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
NMR assignments of the FKBP-type PPIase domain of the human aryl-hydrocarbon receptor-interacting protein (AIP). Linnert M Biomolecular NMR assignments 2012 PMID: 22287093

Text-mined citations for rs1591044815...

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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 Oct 24, 2021