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NM_014714.4(IFT140):c.2501G>A (p.Arg834Gln)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Jun 6, 2020
Accession:
VCV000445742.4
Variation ID:
445742
Description:
single nucleotide variant
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NM_014714.4(IFT140):c.2501G>A (p.Arg834Gln)

Allele ID
439014
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16p13.3
Genomic location
16: 1526695 (GRCh38) GRCh38 UCSC
16: 1576696 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.1526695C>T
NC_000016.9:g.1576696C>T
NG_032783.1:g.90414G>A
NM_014714.4:c.2501G>A MANE Select NP_055529.2:p.Arg834Gln missense
Protein change
R834Q
Other names
-
Canonical SPDI
NC_000016.10:1526694:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00003
Exome Aggregation Consortium (ExAC) 0.00006
Trans-Omics for Precision Medicine (TOPMed) 0.00005
The Genome Aggregation Database (gnomAD), exomes 0.00002
Links
ClinGen: CA7813607
dbSNP: rs771116194
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, multiple submitters, no conflicts Jun 6, 2020 RCV001120816.2
Uncertain significance 1 criteria provided, single submitter Jun 26, 2017 RCV000514519.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
IFT140 - - GRCh38
GRCh37
533 837

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jun 26, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics
Accession: SCV000610410.1
Submitted: (Oct 05, 2017)
Evidence details
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Saldino-Mainzer syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001279325.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Uncertain significance
(Jun 06, 2020)
criteria provided, single submitter
Method: clinical testing
Saldino-Mainzer syndrome
Allele origin: germline
Invitae
Accession: SCV001486532.1
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces arginine with glutamine at codon 834 of the IFT140 protein (p.Arg834Gln). The arginine residue is moderately conserved and there is a … (more)

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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs771116194...

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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 Sep 29, 2021