Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_003680.4(YARS1):c.241_242delinsAT (p.Asp81Ile)

Help
Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Mar 25, 2015)
Last evaluated:
Dec 1, 2014
Accession:
VCV000187863.2
Variation ID:
187863
Description:
2bp indel
Help

NM_003680.4(YARS1):c.241_242delinsAT (p.Asp81Ile)

Allele ID
185755
Variant type
Indel
Variant length
2 bp
Cytogenetic location
1p35.1
Genomic location
1: 32810729-32810730 (GRCh38) GRCh38 UCSC
1: 33276330-33276331 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_273:g.12303_12304delinsAT
NM_003680.3:c.241_242delGAinsAT missense
NC_000001.10:g.33276330_33276331delinsAT
... more HGVS
Protein change
D81I
Other names
-
Canonical SPDI
NC_000001.11:32810728:TC:AT
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA198550
OMIM: 603623.0004
dbSNP: rs786204003
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Dec 1, 2014 RCV000167583.5
Help
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

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Dec 01, 2014)
no assertion criteria provided
Method: literature only
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C
Allele origin: germline
OMIM
Accession: SCV000218464.3
Submitted: (Mar 25, 2015)
Evidence details
Publications
PubMed (1)

Functional evidence

Help
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

Help
Title Author Journal Year Link
Rare variants in methionyl- and tyrosyl-tRNA synthetase genes in late-onset autosomal dominant Charcot-Marie-Tooth neuropathy. Hyun YS Clinical genetics 2014 PMID: 24354524

Text-mined citations for rs786204003...

Help
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 24, 2021