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NM_003977.4(AIP):c.40C>T (p.Gln14Ter)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
3 (Most recent: Nov 30, 2020)
Last evaluated:
Sep 25, 2019
Accession:
VCV000004886.3
Variation ID:
4886
Description:
single nucleotide variant
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NM_003977.4(AIP):c.40C>T (p.Gln14Ter)

Allele ID
19925
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q13.2
Genomic location
11: 67483198 (GRCh38) GRCh38 UCSC
11: 67250669 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.67483198C>T
NC_000011.9:g.67250669C>T
NM_003977.4:c.40C>T MANE Select NP_003968.3:p.Gln14Ter nonsense
... more HGVS
Protein change
Q14*
Other names
-
Canonical SPDI
NC_000011.10:67483197:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00003
Links
OMIM: 605555.0001
dbSNP: rs104894194
ClinGen: CA117122
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Sep 25, 2019 RCV001021869.1
Pathogenic 1 no assertion criteria provided May 26, 2006 RCV000005163.4
Pathogenic 1 no assertion criteria provided May 26, 2006 RCV000508640.1
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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
375 392

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Sep 25, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV001183538.2
Submitted: (Nov 30, 2020)
Evidence details
Comment:
The p.Q14* pathogenic mutation (also known as c.40C>T), located in coding exon 1 of the AIP gene, results from a C to T substitution at … (more)
Pathogenic
(May 26, 2006)
no assertion criteria provided
Method: literature only
PITUITARY ADENOMA PREDISPOSITION
Allele origin: germline
OMIM
Accession: SCV000025340.3
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)
Pathogenic
(May 26, 2006)
no assertion criteria provided
Method: literature only
PITUITARY ADENOMA 1, GROWTH HORMONE-SECRETING
Allele origin: germline
OMIM
Accession: SCV000605833.1
Submitted: (Sep 26, 2017)
Evidence details
Publications
PubMed (1)

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
Pituitary adenoma predisposition caused by germline mutations in the AIP gene. Vierimaa O Science (New York, N.Y.) 2006 PMID: 16728643

Text-mined citations for rs104894194...

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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 Jan 16, 2021