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NM_003680.4(YARS1):c.1486A>G (p.Lys496Glu)

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Interpretation:
Likely benign​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 3, 2019
Accession:
VCV000697735.3
Variation ID:
697735
Description:
single nucleotide variant
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NM_003680.4(YARS1):c.1486A>G (p.Lys496Glu)

Allele ID
685704
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p35.1
Genomic location
1: 32776082 (GRCh38) GRCh38 UCSC
1: 33241683 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_273:g.46951A>G
LRG_273t1:c.1486A>G LRG_273p1:p.Lys496Glu
NC_000001.10:g.33241683T>C
... more HGVS
Protein change
K496E
Other names
-
Canonical SPDI
NC_000001.11:32776081:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.00080 (C)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00029
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00031
Trans-Omics for Precision Medicine (TOPMed) 0.00036
1000 Genomes Project 0.00080
The Genome Aggregation Database (gnomAD) 0.00041
The Genome Aggregation Database (gnomAD), exomes 0.00007
Exome Aggregation Consortium (ExAC) 0.00013
Trans-Omics for Precision Medicine (TOPMed) 0.00038
Links
dbSNP: rs200375230
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 Oct 3, 2019 RCV000864767.3
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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
255 302

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Oct 03, 2019)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease, dominant intermediate C
Allele origin: germline
Invitae
Accession: SCV001005620.3
Submitted: (Jan 07, 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 rs200375230...

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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 Dec 04, 2021