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NM_002047.4(GARS1):c.-6A>G AND Charcot-Marie-Tooth disease type 2

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 24, 2014
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV001327334.6

Allele description [Variation Report for NM_002047.4(GARS1):c.-6A>G]

NM_002047.4(GARS1):c.-6A>G

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.-6A>G
HGVS:
  • NC_000007.14:g.30594916A>G
  • NG_007942.1:g.5352A>G
  • NM_001316772.1:c.-168A>G
  • NM_002047.4:c.-6A>GMANE SELECT
  • LRG_243t1:c.-6A>G
  • LRG_243:g.5352A>G
  • NC_000007.13:g.30634532A>G
  • NM_002047.2:c.-6A>G
Links:
dbSNP: rs747409671
NCBI 1000 Genomes Browser:
rs747409671
Molecular consequence:
  • NM_001316772.1:c.-168A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_002047.4:c.-6A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]

Condition(s)

Name:
Charcot-Marie-Tooth disease type 2
Synonyms:
Charcot-Marie-Tooth, Type 2
Identifiers:
MONDO: MONDO:0018993; MedGen: C0270914

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001518402Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Jul 24, 2014) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001518402.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

There is no evidence to indicate that this sequence change is pathogenic. It is possible that this sequence change represents a benign polymorphism in the GARS gene, although at this time the evidence is insufficient to prove that conclusively. This sequence change does not fit the missense-only mutation spectrum of the GARS gene. This sequence change falls in the 5'UTR of the GARS gene. It does not change the protein sequence and is not predicted to affect splicing, but this prediction has not been confirmed by functional studies. This sequence change has not been reported in affected patients and has not been reported as a common polymorphism in the population.

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

Last Updated: Sep 29, 2024