NM_002047.4(GARS1):c.1660G>A (p.Asp554Asn) AND multiple conditions

Clinical significance:Pathogenic (Last evaluated: Jul 14, 2021)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001542257.1

Allele description [Variation Report for NM_002047.4(GARS1):c.1660G>A (p.Asp554Asn)]

NM_002047.4(GARS1):c.1660G>A (p.Asp554Asn)

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.1660G>A (p.Asp554Asn)
HGVS:
  • NC_000007.14:g.30626280G>A
  • NG_007942.1:g.36716G>A
  • NM_001316772.1:c.1498G>A
  • NM_002047.4:c.1660G>AMANE SELECT
  • NP_001303701.1:p.Asp500Asn
  • NP_002038.2:p.Asp554Asn
  • LRG_243t1:c.1660G>A
  • LRG_243:g.36716G>A
  • NC_000007.13:g.30665896G>A
  • NM_002047.1:c.1498G>A
  • NM_002047.2:c.1660G>A
  • NM_002047.3:c.1660G>A
  • P41250:p.Asp554Asn
  • p.Asp500Asn
Protein change:
D500N; ASP500ASN
Links:
UniProtKB: P41250#VAR_073193; OMIM: 600287.0005; dbSNP: rs137852647
NCBI 1000 Genomes Browser:
rs137852647
Molecular consequence:
  • NM_001316772.1:c.1498G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002047.4:c.1660G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Charcot-Marie-Tooth disease type 2D (CMT2D)
Synonyms:
CMT 2D; Charcot-Marie-Tooth disease, axonal, Type 2D; Charcot-Marie-Tooth disease, neuronal, Type 2D; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0011091; MedGen: C1832274; Orphanet: 99938; OMIM: 601472
Name:
Distal hereditary motor neuronopathy type 5 (HMN5)
Synonyms:
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V; NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VA; NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VA; See all synonyms [MedGen]
Identifiers:
MedGen: C5399969; Orphanet: 139536; OMIM: 600794

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001760939GeneReviewsno assertion criteria providedPathogenic
(Jul 14, 2021)
germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Coexistence of CMT-2D and distal SMA-V phenotypes in an Italian family with a GARS gene mutation.

Del Bo R, Locatelli F, Corti S, Scarlato M, Ghezzi S, Prelle A, Fagiolari G, Moggio M, Carpo M, Bresolin N, Comi GP.

Neurology. 2006 Mar 14;66(5):752-4.

PubMed [citation]
PMID:
16534118

GARS1-Associated Axonal Neuropathy.

Markovitz R, Ghosh R, Lotze T, Potocki L.

2006 Nov 8 [updated 2021 Jul 22]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021.

PubMed [citation]
PMID:
20301420

Details of each submission

From GeneReviews, SCV001760939.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

GARS1-HMSN (CMT2D & dSMA-V) [Del Bo et al 2006]

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 27, 2021

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