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NM_003680.4(YARS1):c.1507G>A (p.Ala503Thr)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Aug 4, 2019
Accession:
VCV000297148.4
Variation ID:
297148
Description:
single nucleotide variant
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NM_003680.4(YARS1):c.1507G>A (p.Ala503Thr)

Allele ID
282198
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p35.1
Genomic location
1: 32776061 (GRCh38) GRCh38 UCSC
1: 33241662 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_273:g.46972G>A
LRG_273t1:c.1507G>A LRG_273p1:p.Ala503Thr
NC_000001.10:g.33241662C>T
... more HGVS
Protein change
A503T
Other names
-
Canonical SPDI
NC_000001.11:32776060:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00001
The Genome Aggregation Database (gnomAD) 0.00003
Links
ClinGen: CA744865
dbSNP: rs778099655
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 2 criteria provided, multiple submitters, no conflicts Aug 4, 2019 RCV000354265.4
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
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
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease, dominant intermediate C
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000357233.3
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)
Uncertain significance
(Aug 04, 2019)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease, dominant intermediate C
Allele origin: germline
Invitae
Accession: SCV001390671.2
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces alanine with threonine at codon 503 of the YARS protein (p.Ala503Thr). The alanine residue is highly conserved and there is a … (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 rs778099655...

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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