NM_004990.4(MARS1):c.1388A>G (p.Glu463Gly) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 15, 2021
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:: RCV001772797.2

Allele description [Variation Report for NM_004990.4(MARS1):c.1388A>G (p.Glu463Gly)]

NM_004990.4(MARS1):c.1388A>G (p.Glu463Gly)

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.1388A>G (p.Glu463Gly)

HGVS:

NC_000012.12:g.57511717A>G
NG_034077.1:g.28765A>G
NM_004990.4:c.1388A>GMANE SELECT
NP_004981.2:p.Glu463Gly
NC_000012.11:g.57905500A>G
NM_004990.3:c.1388A>G

Protein change:

E463G

Links:

dbSNP: rs149432418

NCBI 1000 Genomes Browser:

rs149432418

Molecular consequence:

NM_004990.4:c.1388A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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Saxifraga subsessiliflora voucher Supplementary Expedition Team to Qinghai-Tibet...
Saxifraga subsessiliflora voucher Supplementary Expedition Team to Qinghai-Tibet (KUN) trnL(UAA) gene and trnL-trnF intergenic spacer, partial sequence; chloroplast
gi|998152014|gb|KU524439.1|

Nucleotide
Saxifraga geranioides x Saxifraga pubescens subsp. iratiana isolate Spg1_1728xg-...
Saxifraga geranioides x Saxifraga pubescens subsp. iratiana isolate Spg1_1728xg-1 trnL-rpl32 intergenic spacer, complete sequence; ribosomal protein L32 (rpl32) gene, complete cds; and rpl32-ndhF intergenic spacer, complete sequence; chloroplast
gi|2431123527|gb|OP823100.1|

Nucleotide
Mus musculus Ly49J gene, intron 1 and exon 2, partial sequence; and partial cds
Mus musculus Ly49J gene, intron 1 and exon 2, partial sequence; and partial cds
gi|14009606|gb|AF294736.1|

Nucleotide
Mus musculus strain 129 Ly49i1 gene, exons 3 and 4 and partial cds
Mus musculus strain 129 Ly49i1 gene, exons 3 and 4 and partial cds
gi|18699272|gb|AF425095.1|

Nucleotide
putative protein kinase [Arabidopsis thaliana]
putative protein kinase [Arabidopsis thaliana]
gi|20198014|gnl|TIGR|At2g40270|gb|A 62.2|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001993432	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Feb 15, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001993432

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Feb 15, 2021)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV001993432.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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