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NM_003977.4(AIP):c.965C>T (p.Ala322Val)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 24, 2020
Accession:
VCV000041216.4
Variation ID:
41216
Description:
single nucleotide variant
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NM_003977.4(AIP):c.965C>T (p.Ala322Val)

Allele ID
49638
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q13.2
Genomic location
11: 67490965 (GRCh38) GRCh38 UCSC
11: 67258436 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_460t1:c.965C>T
NC_000011.10:g.67490965C>T
NC_000011.9:g.67258436C>T
... more HGVS
Protein change
A322V, A263V
Other names
-
Canonical SPDI
NC_000011.10:67490964:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00004
Exome Aggregation Consortium (ExAC) 0.00010
The Genome Aggregation Database (gnomAD), exomes 0.00004
The Genome Aggregation Database (gnomAD) 0.00003
Links
ClinGen: CA344215
dbSNP: rs267606586
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 Oct 24, 2020 RCV001061414.2
Likely benign 1 no assertion criteria provided Jun 21, 2012 RCV000034115.3
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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
Uncertain significance
(Oct 24, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001226157.2
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces alanine with valine at codon 322 of the AIP protein (p.Ala322Val). The alanine 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: SCV000058045.2
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

Text-mined citations for rs267606586...

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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