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.824dup (p.His275fs)

Help
Interpretation:
Pathogenic/Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
2 (Most recent: Mar 26, 2013)
Last evaluated:
Jun 21, 2012
Accession:
VCV000004890.2
Variation ID:
4890
Description:
1bp duplication
Help

NM_003977.4(AIP):c.824dup (p.His275fs)

Allele ID
19929
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
11q13.2
Genomic location
11: 67490823-67490824 (GRCh38) GRCh38 UCSC
11: 67258294-67258295 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_460:g.12791dup
LRG_460t1:c.824dup
NC_000011.10:g.67490824dup
... more HGVS
Protein change
R273fs, H275fs, H216fs
Other names
-
Canonical SPDI
NC_000011.10:67490823:A:AA
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
OMIM: 605555.0005
dbSNP: rs267606580
ClinGen: CA340306
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 2 no assertion criteria provided Jun 21, 2012 RCV000005168.9
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
probable-pathogenic
(Jun 21, 2012)
no assertion criteria provided
Method: curation
AIP-Related Familial Isolated Pituitary Adenomas
Allele origin: not provided
GeneReviews
Accession: SCV000058040.2
Submitted: (Mar 26, 2013)
Evidence details
Comment:
Converted during submission to Likely pathogenic.
Pathogenic
(Mar 06, 2007)
no assertion criteria provided
Method: literature only
PITUITARY ADENOMA 1, GROWTH HORMONE-SECRETING
Allele origin: germline
OMIM
Accession: SCV000025345.3
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)

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
Molecular diagnosis of pituitary adenoma predisposition caused by aryl hydrocarbon receptor-interacting protein gene mutations. Georgitsi M Proceedings of the National Academy of Sciences of the United States of America 2007 PMID: 17360484

Text-mined citations for rs267606580...

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 Oct 24, 2021