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NM_014714.4(IFT140):c.3141+1G>T

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jul 4, 2021)
Last evaluated:
Apr 1, 2019
Accession:
VCV000523180.7
Variation ID:
523180
Description:
single nucleotide variant
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NM_014714.4(IFT140):c.3141+1G>T

Allele ID
513807
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16p13.3
Genomic location
16: 1524551 (GRCh38) GRCh38 UCSC
16: 1574552 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.1524551C>A
NC_000016.9:g.1574552C>A
NG_032783.1:g.92558G>T
NM_014714.4:c.3141+1G>T MANE Select splice donor
Protein change
-
Other names
-
Canonical SPDI
NC_000016.10:1524550:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
Exome Aggregation Consortium (ExAC) 0.00001
Links
ClinGen: CA7813303
dbSNP: rs764770536
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Jan 1, 2018 RCV000626463.1
Pathogenic 1 criteria provided, single submitter Apr 1, 2019 RCV001091435.2
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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
Pathogenic
(Jan 01, 2018)
criteria provided, single submitter
Method: research
Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia
Joubert syndrome with Jeune asphyxiating thoracic dystrophy
(Autosomal recessive inheritance)
Allele origin: inherited
Laboratory of Medical Genetics, INSERM
Accession: SCV000746990.1
Submitted: (Apr 06, 2018)
Evidence details
Publications
PubMed (1)
Pathogenic
(Apr 01, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001247486.6
Submitted: (Jul 04, 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
Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140. Geoffroy V Human mutation 2018 PMID: 29688594

Text-mined citations for rs764770536...

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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 Oct 08, 2021