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NM_052989.3(IFT122):c.3031G>C (p.Ala1011Pro)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Jul 10, 2019
Accession:
VCV000948374.3
Variation ID:
948374
Description:
single nucleotide variant
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NM_052989.3(IFT122):c.3031G>C (p.Ala1011Pro)

Allele ID
923048
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3q22.1
Genomic location
3: 129514432 (GRCh38) GRCh38 UCSC
3: 129233275 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.129233275G>C
NC_000003.12:g.129514432G>C
NM_052989.3:c.3031G>C MANE Select NP_443715.1:p.Ala1011Pro missense
... more HGVS
Protein change
A1004P, A802P, A901P, A1011P, A1062P, A861P, A952P
Other names
-
Canonical SPDI
NC_000003.12:129514431:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
OMIM: 606045.0007
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 Jul 10, 2019 RCV001219619.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
IFT122 - - GRCh38
GRCh37
227 241

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jul 10, 2019)
criteria provided, single submitter
Method: clinical testing
Cranioectodermal dysplasia 1
Allele origin: germline
Invitae
Accession: SCV001391567.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces alanine with proline at codon 1062 of the IFT122 protein (p.Ala1062Pro). The alanine residue is highly conserved and there is a … (more)
Pathogenic
(Feb 01, 2011)
no assertion criteria provided
Method: literature only
CRANIOECTODERMAL DYSPLASIA 1
Allele origin: germline
OMIM
Accession: SCV001441270.1
Submitted: (Oct 29, 2020)
Evidence details
Publications
PubMed (2)

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
Beemer-Langer syndrome is a ciliopathy due to biallelic mutations in IFT122. Silveira KC American journal of medical genetics. Part A 2017 PMID: 28370949
Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum. Cavalcanti DP Journal of medical genetics 2011 PMID: 19648123

Record last updated Apr 08, 2021