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NM_014714.4(IFT140):c.2724C>T (p.Ala908=)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Feb 20, 2020)
Last evaluated:
Dec 31, 2019
Accession:
VCV000790139.3
Variation ID:
790139
Description:
single nucleotide variant
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NM_014714.4(IFT140):c.2724C>T (p.Ala908=)

Allele ID
714755
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16p13.3
Genomic location
16: 1525931 (GRCh38) GRCh38 UCSC
16: 1575932 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.1525931G>A
NC_000016.9:g.1575932G>A
NM_014714.4:c.2724C>T MANE Select NP_055529.2:p.Ala908= synonymous
NG_032783.1:g.91178C>T
Protein change
-
Other names
-
Canonical SPDI
NC_000016.10:1525930:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00010
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00023
Trans-Omics for Precision Medicine (TOPMed) 0.00010
Exome Aggregation Consortium (ExAC) 0.00021
The Genome Aggregation Database (gnomAD) 0.00006
Links
dbSNP: rs138166567
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Dec 31, 2019 RCV000972873.3
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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
Likely benign
(Dec 31, 2019)
criteria provided, single submitter
Method: clinical testing
Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia
Allele origin: germline
Invitae
Accession: SCV001120601.2
Submitted: (Jan 29, 2020)
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: SCV001275394.1
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)

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 rs138166567...

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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 Dec 03, 2020