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NM_014714.4(IFT140):c.3874-1G>A

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Sep 11, 2020
Accession:
VCV000961146.2
Variation ID:
961146
Description:
single nucleotide variant
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NM_014714.4(IFT140):c.3874-1G>A

Allele ID
960134
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16p13.3
Genomic location
16: 1520048 (GRCh38) GRCh38 UCSC
16: 1570049 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.9:g.1570049C>T
NC_000016.10:g.1520048C>T
NM_014714.4:c.3874-1G>A MANE Select splice acceptor
NG_032783.1:g.97061G>A
Protein change
-
Other names
-
Canonical SPDI
NC_000016.10:1520047:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Sep 11, 2020 RCV001234793.2
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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
Likely pathogenic
(Sep 11, 2020)
criteria provided, single submitter
Method: clinical testing
Saldino-Mainzer syndrome
Allele origin: germline
Invitae
Accession: SCV001407453.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (5)
Comment:
This sequence change affects an acceptor splice site in intron 28 of the IFT140 gene. It is expected to disrupt RNA splicing and likely results … (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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Title Author Journal Year Link
Mutations in human IFT140 cause non-syndromic retinal degeneration. Xu M Human genetics 2015 PMID: 26216056
Cauli: a mouse strain with an Ift140 mutation that results in a skeletal ciliopathy modelling Jeune syndrome. Miller KA PLoS genetics 2013 PMID: 24009529
Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease. Schmidts M Human mutation 2013 PMID: 23418020
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations. Perrault I American journal of human genetics 2012 PMID: 22503633
Splicing in action: assessing disease causing sequence changes. Baralle D Journal of medical genetics 2005 PMID: 16199547

Record last updated May 10, 2021