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NM_014714.4(IFT140):c.2767_2768+2del

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 6, 2019
Accession:
VCV000863072.3
Variation ID:
863072
Description:
4bp deletion
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NM_014714.4(IFT140):c.2767_2768+2del

Allele ID
852626
Variant type
Deletion
Variant length
4 bp
Cytogenetic location
16p13.3
Genomic location
16: 1525885-1525888 (GRCh38) GRCh38 UCSC
16: 1575886-1575889 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.1525888_1525891del
NC_000016.9:g.1575889_1575892del
NM_014714.4:c.2767_2768+2del MANE Select splice donor
NG_032783.1:g.91221_91224del
Protein change
-
Other names
-
Canonical SPDI
NC_000016.10:1525884:ACTAACT:ACT
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 Dec 6, 2019 RCV001069954.2
Likely pathogenic 1 criteria provided, single submitter Feb 22, 2019 RCV001075635.1
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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
533 837

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Feb 22, 2019)
criteria provided, single submitter
Method: clinical testing
Retinal dystrophy
Allele origin: germline
Blueprint Genetics
Accession: SCV001241262.1
Submitted: (Oct 15, 2019)
Comment:
My Retina Tracker patient
Evidence details
Likely pathogenic
(Dec 06, 2019)
criteria provided, single submitter
Method: clinical testing
Saldino-Mainzer syndrome
Allele origin: germline
Invitae
Accession: SCV001235154.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (4)
Comment:
This variant results in the deletion of part of exon 21 (c.2767_2768+2del) of the IFT140 gene. It is expected to disrupt RNA splicing and likely … (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

Record last updated May 10, 2021