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NM_052989.3(IFT122):c.1526T>C (p.Val509Ala)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(2);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 7, 2018
Accession:
VCV000595634.3
Variation ID:
595634
Description:
single nucleotide variant
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NM_052989.3(IFT122):c.1526T>C (p.Val509Ala)

Allele ID
586696
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3q21.3
Genomic location
3: 129481567 (GRCh38) GRCh38 UCSC
3: 129200410 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.129200410T>C
NC_000003.12:g.129481567T>C
NM_052989.3:c.1526T>C MANE Select NP_443715.1:p.Val509Ala missense
... more HGVS
Protein change
V560A, V450A, V501A, V398A, V300A, V359A, V509A
Other names
-
Canonical SPDI
NC_000003.12:129481566:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (C)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00022
Trans-Omics for Precision Medicine (TOPMed) 0.00010
1000 Genomes Project 0.00020
The Genome Aggregation Database (gnomAD), exomes 0.00029
Links
dbSNP: rs191420441
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Nov 7, 2018 RCV001432301.1
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Oct 25, 2018 RCV000731240.2
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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
273 287

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jan 23, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000859034.1
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely benign
(Oct 25, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001131951.1
Submitted: (Mar 14, 2019)
Evidence details
Likely benign
(Nov 07, 2018)
criteria provided, single submitter
Method: clinical testing
Cranioectodermal dysplasia 1
Allele origin: germline
Invitae
Accession: SCV001635066.1
Submitted: (Jan 07, 2021)
Evidence details

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
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=IFT122 - - - -

Text-mined citations for rs191420441...

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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 May 26, 2021