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NM_003680.4(YARS1):c.260G>A (p.Trp87Ter)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Apr 9, 2020
Accession:
VCV000451509.4
Variation ID:
451509
Description:
single nucleotide variant
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NM_003680.4(YARS1):c.260G>A (p.Trp87Ter)

Allele ID
442823
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p35.1
Genomic location
1: 32810711 (GRCh38) GRCh38 UCSC
1: 33276312 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_273:g.12322G>A
LRG_273t1:c.260G>A LRG_273p1:p.Trp87Ter
NC_000001.10:g.33276312C>T
... more HGVS
Protein change
W87*
Other names
-
Canonical SPDI
NC_000001.11:32810710:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00002
The Genome Aggregation Database (gnomAD), exomes 0.00001
Exome Aggregation Consortium (ExAC) 0.00002
Links
ClinGen: CA745239
dbSNP: rs776952611
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 Aug 28, 2017 RCV000520767.1
Uncertain significance 1 criteria provided, single submitter Apr 9, 2020 RCV001242803.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
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
(Aug 28, 2017)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000620224.1
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The W87X variant in the YARS gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This … (more)
Uncertain significance
(Apr 09, 2020)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease, dominant intermediate C
Allele origin: germline
Invitae
Accession: SCV001415915.2
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change creates a premature translational stop signal (p.Trp87*) in the YARS gene. It is expected to result in an absent or disrupted protein … (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 rs776952611...

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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 30, 2021