Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_014714.4(IFT140):c.1574G>C (p.Cys525Ser)

Help
Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 17, 2020
Accession:
VCV000766901.4
Variation ID:
766901
Description:
single nucleotide variant
Help

NM_014714.4(IFT140):c.1574G>C (p.Cys525Ser)

Allele ID
703510
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16p13.3
Genomic location
16: 1571485 (GRCh38) GRCh38 UCSC
16: 1621486 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.1571485C>G
NC_000016.9:g.1621486C>G
NM_014714.4:c.1574G>C MANE Select NP_055529.2:p.Cys525Ser missense
NG_032783.1:g.45624G>C
Protein change
C525S
Other names
-
Canonical SPDI
NC_000016.10:1571484:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00280 (G)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00118
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00077
1000 Genomes Project 0.00280
The Genome Aggregation Database (gnomAD), exomes 0.00027
Exome Aggregation Consortium (ExAC) 0.00042
Trans-Omics for Precision Medicine (TOPMed) 0.00102
Links
dbSNP: rs112545558
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Nov 17, 2020 RCV000945491.3
Uncertain significance 1 criteria provided, single submitter Feb 6, 2019 RCV001074634.1
Help
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

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Feb 06, 2019)
criteria provided, single submitter
Method: clinical testing
Retinal dystrophy
Allele origin: germline
Blueprint Genetics
Accession: SCV001240226.1
Submitted: (Oct 15, 2019)
Comment:
My Retina Tracker patient
Evidence details
Likely benign
(Nov 17, 2020)
criteria provided, single submitter
Method: clinical testing
Saldino-Mainzer syndrome
Allele origin: germline
Invitae
Accession: SCV001091512.3
Submitted: (Jan 07, 2021)
Evidence details

Functional evidence

Help
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

Help
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 rs112545558...

Help
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 Jun 06, 2021