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NM_003680.4(YARS1):c.1079C>A (p.Pro360Gln)

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Interpretation:
Likely benign​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 29, 2020)
Last evaluated:
Dec 31, 2019
Accession:
VCV000699667.2
Variation ID:
699667
Description:
single nucleotide variant
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NM_003680.4(YARS1):c.1079C>A (p.Pro360Gln)

Allele ID
685707
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p35.1
Genomic location
1: 32781109 (GRCh38) GRCh38 UCSC
1: 33246710 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_003680.3:c.1079C>A NP_003671.1:p.Pro360Gln missense
NC_000001.10:g.33246710G>T
NC_000001.11:g.32781109G>T
... more HGVS
Protein change
P360Q
Other names
-
Canonical SPDI
NC_000001.11:32781108:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00040 (T)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00006
The Genome Aggregation Database (gnomAD) 0.00001
The Genome Aggregation Database (gnomAD) 0.00003
Trans-Omics for Precision Medicine (TOPMed) 0.00005
The Genome Aggregation Database (gnomAD), exomes 0.00006
Trans-Omics for Precision Medicine (TOPMed) 0.00003
1000 Genomes Project 0.00040
Links
dbSNP: rs562054969
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Dec 31, 2019 RCV000867567.2
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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
Likely benign
(Dec 31, 2019)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease, dominant intermediate C
Allele origin: germline
Invitae
Accession: SCV001008809.2
Submitted: (Jan 29, 2020)
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 rs562054969...

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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