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NM_014714.4(IFT140):c.2682_2683insA (p.His895fs)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Feb 1, 2019)
Last evaluated:
Apr 27, 2017
Accession:
VCV000318047.2
Variation ID:
318047
Description:
1bp insertion
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NM_014714.4(IFT140):c.2682_2683insA (p.His895fs)

Allele ID
342050
Variant type
Insertion
Variant length
1 bp
Cytogenetic location
16p13.3
Genomic location
16: 1525972-1525973 (GRCh38) GRCh38 UCSC
16: 1575973-1575974 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.1525972_1525973insT
NC_000016.9:g.1575973_1575974insT
NM_014714.4:c.2682_2683insA MANE Select NP_055529.2:p.His895fs frameshift
NG_032783.1:g.91136_91137insA
Protein change
H895fs
Other names
-
Canonical SPDI
NC_000016.10:1525972::T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
Exome Aggregation Consortium (ExAC) 0.00003
Links
ClinGen: CA7813534
dbSNP: rs776988446
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Apr 27, 2017 RCV000362187.2
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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
Uncertain significance
(Apr 27, 2017)
criteria provided, single submitter
Method: clinical testing
Saldino-Mainzer syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000395133.3
Submitted: (Feb 01, 2019)
Evidence details
Comment:
The IFT140 c.2682_2683insA (p.His895ThrfsTer57) variant results in a frameshift, and is predicted to result in premature termination of the protein. A literature search was performed … (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 rs776988446...

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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