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NM_003977.4(AIP):c.174G>C (p.Lys58Asn)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Jan 14, 2020
Accession:
VCV000041166.7
Variation ID:
41166
Description:
single nucleotide variant
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NM_003977.4(AIP):c.174G>C (p.Lys58Asn)

Allele ID
49588
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q13.2
Genomic location
11: 67487080 (GRCh38) GRCh38 UCSC
11: 67254551 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_460:g.9047G>C
LRG_460t1:c.174G>C
NC_000011.9:g.67254551G>C
... more HGVS
Protein change
K58N
Other names
-
Canonical SPDI
NC_000011.10:67487079:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Links
ClinGen: CA344071
dbSNP: rs267606539
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 2 criteria provided, single submitter Apr 27, 2017 RCV000034065.4
Uncertain significance 1 criteria provided, single submitter Jun 18, 2019 RCV001012978.1
Uncertain significance 1 criteria provided, single submitter Jan 14, 2020 RCV001038333.2
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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
(Jun 18, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV001173508.2
Submitted: (Nov 30, 2020)
Evidence details
Publications
PubMed (4)
Comment:
The p.K58N variant (also known as c.174G>C), located in coding exon 2 of the AIP gene, results from a G to C substitution at nucleotide … (more)
Uncertain significance
(Apr 27, 2017)
criteria provided, single submitter
Method: clinical testing
Somatotroph adenoma
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000373575.3
Submitted: (Feb 01, 2019)
Evidence details
Publications
PubMed (2)
Comment:
The API c.174G>C (p.Lys58Asn) missense variant has been reported in at least two studies in which it is found in two patients with pituitary macroadenoma … (more)
Uncertain significance
(Jan 14, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001201799.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (3)
Comment:
This sequence change replaces lysine with asparagine at codon 58 of the AIP protein (p.Lys58Asn). The lysine residue is highly conserved and there is a … (more)
probable-pathogenic
(Jun 21, 2012)
no assertion criteria provided
Method: curation
AIP-Related Familial Isolated Pituitary Adenomas
Allele origin: not provided
GeneReviews
Accession: SCV000057995.2
Submitted: (Mar 26, 2013)
Evidence details
Comment:
Converted during submission to Likely pathogenic.

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
Familial isolated pituitary adenomas (FIPA) and the pituitary adenoma predisposition due to mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene. Beckers A Endocrine reviews 2013 PMID: 23371967
Genetic analysis in young patients with sporadic pituitary macroadenomas: besides AIP don't forget MEN1 genetic analysis. Cuny T European journal of endocrinology 2013 PMID: 23321498
Germline AIP mutations in apparently sporadic pituitary adenomas: prevalence in a prospective single-center cohort of 443 patients. Cazabat L The Journal of clinical endocrinology and metabolism 2012 PMID: 22319033
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

Text-mined citations for rs267606539...

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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 30, 2021