NM_004990.4(MARS1):c.1812G>A (p.Gly604=) AND not provided

Clinical significance:Benign (Last evaluated: Apr 25, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000756323.5

Allele description [Variation Report for NM_004990.4(MARS1):c.1812G>A (p.Gly604=)]

NM_004990.4(MARS1):c.1812G>A (p.Gly604=)

Gene:
MARS1:methionyl-tRNA synthetase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q13.3
Genomic location:
Preferred name:
NM_004990.4(MARS1):c.1812G>A (p.Gly604=)
HGVS:
  • NC_000012.12:g.57512809G>A
  • NG_034077.1:g.29857G>A
  • NM_004990.4:c.1812G>AMANE SELECT
  • NP_004981.2:p.Gly604=
  • NC_000012.11:g.57906592G>A
  • NM_004990.3:c.1812G>A
  • p.Gly604Gly
Links:
dbSNP: rs117633211
NCBI 1000 Genomes Browser:
rs117633211
Molecular consequence:
  • NM_004990.4:c.1812G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000884094ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratoriescriteria provided, single submitter
Benign
(Apr 25, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV000884094.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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