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NM_002047.4(GARS1):c.1415A>G (p.His472Arg) AND Charcot-Marie-Tooth disease

Germline classification:
Uncertain significance (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000789777.1

Allele description [Variation Report for NM_002047.4(GARS1):c.1415A>G (p.His472Arg)]

NM_002047.4(GARS1):c.1415A>G (p.His472Arg)

Gene:
GARS1:glycyl-tRNA synthetase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7p14.3
Genomic location:
Preferred name:
NM_002047.4(GARS1):c.1415A>G (p.His472Arg)
HGVS:
  • NC_000007.14:g.30621448A>G
  • NG_007942.1:g.31884A>G
  • NM_001316772.1:c.1253A>G
  • NM_002047.4:c.1415A>GMANE SELECT
  • NP_001303701.1:p.His418Arg
  • NP_002038.2:p.His472Arg
  • LRG_243t1:c.1415A>G
  • LRG_243:g.31884A>G
  • NC_000007.13:g.30661064A>G
  • NM_002047.1:c.1253A>G
  • NM_002047.2:c.1415A>G
  • NM_002047.3:c.1415A>G
  • p.His418Arg
Protein change:
H418R; HIS472ARG
Links:
OMIM: 600287.0013; dbSNP: rs1060502838
NCBI 1000 Genomes Browser:
rs1060502838
Molecular consequence:
  • NM_001316772.1:c.1253A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002047.4:c.1415A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Charcot-Marie-Tooth disease
Synonyms:
Charcot-Marie-Tooth Neuropathy
Identifiers:
MONDO: MONDO:0015626; MedGen: C0007959; OMIM: PS118220

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000929161Inherited Neuropathy Consortium
no assertion criteria provided
Uncertain significancegermlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations.

Sivakumar K, Kyriakides T, Puls I, Nicholson GA, Funalot B, Antonellis A, Sambuughin N, Christodoulou K, Beggs JL, Zamba-Papanicolaou E, Ionasescu V, Dalakas MC, Green ED, Fischbeck KH, Goldfarb LG.

Brain. 2005 Oct;128(Pt 10):2304-14. Epub 2005 Jul 13.

PubMed [citation]
PMID:
16014653

Details of each submission

From Inherited Neuropathy Consortium, SCV000929161.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 3, 2024