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NM_014714.4(IFT140):c.1831G>A (p.Val611Ile)

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Interpretation:
Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Sep 23, 2021)
Last evaluated:
Nov 16, 2020
Accession:
VCV000318186.8
Variation ID:
318186
Description:
single nucleotide variant
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NM_014714.4(IFT140):c.1831G>A (p.Val611Ile)

Allele ID
342082
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16p13.3
Genomic location
16: 1566231 (GRCh38) GRCh38 UCSC
16: 1616232 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.1566231C>T
NC_000016.9:g.1616232C>T
NG_032783.1:g.50878G>A
NM_014714.4:c.1831G>A MANE Select NP_055529.2:p.Val611Ile missense
Protein change
V611I
Other names
-
Canonical SPDI
NC_000016.10:1566230:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00419 (T)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00277
The Genome Aggregation Database (gnomAD), exomes 0.00083
Exome Aggregation Consortium (ExAC) 0.00098
The Genome Aggregation Database (gnomAD) 0.00242
Trans-Omics for Precision Medicine (TOPMed) 0.00195
1000 Genomes Project 0.00419
Links
ClinGen: CA7814122
dbSNP: rs35301526
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 2 criteria provided, multiple submitters, no conflicts Nov 16, 2020 RCV000405700.4
Likely benign 2 no assertion criteria provided - RCV001573016.2
Benign 1 no assertion criteria provided - RCV001700056.1
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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 benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Saldino-Mainzer syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000395417.3
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)
Likely benign
(Nov 16, 2020)
criteria provided, single submitter
Method: clinical testing
Saldino-Mainzer syndrome
Allele origin: germline
Invitae
Accession: SCV001021716.3
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
Study: VKGL Data-share Consensus
Accession: SCV001798279.1
Submitted: (Aug 19, 2021)
Evidence details
Benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
Allele origin: germline
Clinical Genetics,Academic Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001919143.1
Submitted: (Sep 23, 2021)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001971774.1
Submitted: (Sep 21, 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 rs35301526...

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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 Oct 07, 2021