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NM_014714.4(IFT140):c.3743T>C (p.Ile1248Thr)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Sep 17, 2021)
Last evaluated:
Nov 21, 2020
Accession:
VCV000317998.7
Variation ID:
317998
Description:
single nucleotide variant
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NM_014714.4(IFT140):c.3743T>C (p.Ile1248Thr)

Allele ID
333873
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16p13.3
Genomic location
16: 1520261 (GRCh38) GRCh38 UCSC
16: 1570262 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.1520261A>G
NC_000016.9:g.1570262A>G
NG_032783.1:g.96848T>C
NM_014714.4:c.3743T>C MANE Select NP_055529.2:p.Ile1248Thr missense
Protein change
I1248T
Other names
-
Canonical SPDI
NC_000016.10:1520260:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.01977 (G)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.01632
Trans-Omics for Precision Medicine (TOPMed) 0.01727
The Genome Aggregation Database (gnomAD), exomes 0.00483
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.01700
1000 Genomes Project 0.01977
Exome Aggregation Consortium (ExAC) 0.00567
Links
dbSNP: rs79494390
ClinGen: CA7813042
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 2 criteria provided, multiple submitters, no conflicts Nov 21, 2020 RCV000336337.7
Benign 1 criteria provided, single submitter Jul 9, 2019 RCV001706499.1
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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
Benign
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Saldino-Mainzer syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000395081.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Nov 21, 2020)
criteria provided, single submitter
Method: clinical testing
Saldino-Mainzer syndrome
Allele origin: germline
Invitae
Accession: SCV000640299.4
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Jul 09, 2019)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001890109.1
Submitted: (Sep 17, 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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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 rs79494390...

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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 Sep 26, 2021