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NM_014714.4(IFT140):c.3693G>A (p.Thr1231=)

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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: Mar 14, 2019)
Last evaluated:
Jul 10, 2018
Accession:
VCV000318000.2
Variation ID:
318000
Description:
single nucleotide variant
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NM_014714.4(IFT140):c.3693G>A (p.Thr1231=)

Allele ID
333877
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16p13.3
Genomic location
16: 1520311 (GRCh38) GRCh38 UCSC
16: 1570312 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.1520311C>T
NC_000016.9:g.1570312C>T
NM_014714.4:c.3693G>A NP_055529.2:p.Thr1231= synonymous
NG_032783.1:g.96798G>A
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00022
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00062
The Genome Aggregation Database (gnomAD), exomes 0.00031
The Genome Aggregation Database (gnomAD) 0.00045
Trans-Omics for Precision Medicine (TOPMed) 0.00037
Links
ClinGen: CA7813059
dbSNP: rs144028766
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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 Jul 10, 2018 RCV000952312.1
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Jun 28, 2017 RCV000301390.1
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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
190 312

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Mainzer-Saldino Syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000395083.2
Submitted: (Oct 18, 2016)
Evidence details
Likely benign
(Jun 28, 2017)
criteria provided, single submitter
Method: clinical testing
Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia
Allele origin: germline
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center
Study: VKGL Data-share Consensus
Accession: SCV000745462.1
Submitted: (Apr 09, 2018)
Evidence details
Likely benign
(Jul 10, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001098807.1
Submitted: (Mar 14, 2019)
Evidence details

Citations for this variant

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

Record last updated Dec 17, 2019