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NM_002047.2(GARS1):c.-418T>A AND not provided

Germline classification:
Benign (1 submission)
Last evaluated:
Jun 14, 2018
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:
RCV000834895.10

Allele description [Variation Report for NM_002047.2(GARS1):c.-418T>A]

NM_002047.2(GARS1):c.-418T>A

Gene:
GARS1:glycyl-tRNA synthetase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7p14.3
Genomic location:
Preferred name:
NM_002047.2(GARS1):c.-418T>A
HGVS:
  • NC_000007.14:g.30594504T>A
  • NG_007942.1:g.4940T>A
  • NG_110761.1:g.272T>A
  • LRG_243t1:c.-418T>A
  • LRG_243:g.4940T>A
  • NC_000007.13:g.30634120T>A
  • NM_002047.2:c.-418T>A
Links:
dbSNP: rs115725201
NCBI 1000 Genomes Browser:
rs115725201

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000976667GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Benign
(Jun 14, 2018) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000976667.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

Last Updated: Nov 10, 2024