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NM_003680.4(YARS1):c.40A>T (p.Ile14Phe)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
3 (Most recent: Sep 23, 2021)
Last evaluated:
Nov 27, 2019
Accession:
VCV000863098.4
Variation ID:
863098
Description:
single nucleotide variant
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NM_003680.4(YARS1):c.40A>T (p.Ile14Phe)

Allele ID
823893
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p35.1
Genomic location
1: 32817205 (GRCh38) GRCh38 UCSC
1: 33282806 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_273:g.5828A>T
LRG_273t1:c.40A>T LRG_273p1:p.Ile14Phe
NC_000001.10:g.33282806T>A
... more HGVS
Protein change
I14F
Other names
-
Canonical SPDI
NC_000001.11:32817204:T:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00003
Exome Aggregation Consortium (ExAC) 0.00003
Links
dbSNP: rs763337272
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 Nov 27, 2019 RCV001069984.1
Uncertain significance 2 no assertion criteria provided - RCV001579564.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
S100PBP - - GRCh38
GRCh37
- 47
YARS1 - - GRCh38
GRCh37
254 301

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Nov 27, 2019)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease, dominant intermediate C
Allele origin: germline
Invitae
Accession: SCV001235189.2
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces isoleucine with phenylalanine at codon 14 of the YARS protein (p.Ile14Phe). The isoleucine residue is highly conserved and there is a … (more)
Uncertain significance
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Genome Diagnostics Laboratory, Amsterdam University Medical Center
Study: VKGL Data-share Consensus
Accession: SCV001807709.1
Submitted: (Aug 24, 2021)
Evidence details
Uncertain significance
(-)
no assertion criteria provided
Method: clinical testing
not provided
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: SCV001923938.1
Submitted: (Sep 23, 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 rs763337272...

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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 Nov 27, 2021