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.803A>G (p.Tyr268Cys)

Help
Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Feb 21, 2020
Accession:
VCV000041206.5
Variation ID:
41206
Description:
single nucleotide variant
Help

NM_003977.4(AIP):c.803A>G (p.Tyr268Cys)

Allele ID
49628
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q13.2
Genomic location
11: 67490803 (GRCh38) GRCh38 UCSC
11: 67258274 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.67490803A>G
NC_000011.9:g.67258274A>G
NG_008969.1:g.12770A>G
... more HGVS
Protein change
Y268C, Y209C
Other names
-
Canonical SPDI
NC_000011.10:67490802:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Links
ClinGen: CA344187
dbSNP: rs267606577
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Aug 14, 2018 RCV001027096.1
Uncertain significance 1 criteria provided, single submitter Feb 21, 2020 RCV001341744.1
Likely pathogenic 1 no assertion criteria provided Jun 21, 2012 RCV000034105.3
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
Uncertain significance
(Aug 14, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV001189601.2
Submitted: (Nov 30, 2020)
Evidence details
Publications
PubMed (4)
Comment:
The p.Y268C variant (also known as c.803A>G), located in coding exon 6 of the AIP gene, results from an A to G substitution at nucleotide … (more)
Uncertain significance
(Feb 21, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001535633.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces tyrosine with cysteine at codon 268 of the AIP protein (p.Tyr268Cys). The tyrosine residue is moderately 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: SCV000058035.2
Submitted: (Mar 26, 2013)
Evidence details
Comment:
Converted during submission to Likely pathogenic.

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
<i>AIP</i> mutations in Brazilian patients with sporadic pituitary adenomas: a single-center evaluation. Araujo PB Endocrine connections 2017 PMID: 29074612
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
Structure of the TPR domain of AIP: lack of client protein interaction with the C-terminal α-7 helix of the TPR domain of AIP is sufficient for pituitary adenoma predisposition. Morgan RM PloS one 2012 PMID: 23300914
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 rs267606577...

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