NM_002109.6(HARS1):c.743A>G (p.Glu248Gly) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 12, 2017
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:: RCV000757350.8

Allele description [Variation Report for NM_002109.6(HARS1):c.743A>G (p.Glu248Gly)]

NM_002109.6(HARS1):c.743A>G (p.Glu248Gly)

Gene:

HARS1:histidyl-tRNA synthetase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q31.3

Genomic location:

Preferred name:

NM_002109.6(HARS1):c.743A>G (p.Glu248Gly)

HGVS:

NC_000005.10:g.140677407T>C
NG_032158.1:g.18980A>G
NM_001258040.3:c.623A>G
NM_001258041.3:c.683A>G
NM_001258042.3:c.563A>G
NM_001289092.2:c.521A>G
NM_001289093.2:c.401A>G
NM_001289094.2:c.656A>G
NM_002109.6:c.743A>GMANE SELECT
NP_001244969.1:p.Glu208Gly
NP_001244970.1:p.Glu228Gly
NP_001244971.1:p.Glu188Gly
NP_001276021.1:p.Glu174Gly
NP_001276022.1:p.Glu134Gly
NP_001276023.1:p.Glu219Gly
NP_002100.2:p.Glu248Gly
LRG_1374t1:c.743A>G
LRG_1374:g.18980A>G
LRG_1374p1:p.Glu248Gly
NC_000005.9:g.140056992T>C
NM_002109.5:c.743A>G

Protein change:

E134G

Links:

dbSNP: rs1261330102

NCBI 1000 Genomes Browser:

rs1261330102

Molecular consequence:

NM_001258040.3:c.623A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001258041.3:c.683A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001258042.3:c.563A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001289092.2:c.521A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001289093.2:c.401A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001289094.2:c.656A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_002109.6:c.743A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000885540	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process)	Uncertain significance (Dec 12, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000885540

ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)

Uncertain significance
(Dec 12, 2017)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV000885540.1

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

Description

The p.Glu248Gly variant has not been reported in the medical literature, gene specific variation databases, nor has it been previously identified by our laboratory. It is absent from general population databases such as 1000 Genomes, NHLBI GO Exome Sequencing Project (ESP), and the Genome Aggregation Database (gnomAD). The glutamic acid at position 248 is weakly conserved considering 12 species (Alamut v2.10) and computational analyses of the effects of the p.Glu248Gly variant on protein structure and function provide conflicting results (SIFT: tolerated, MutationTaster: disease causing, PolyPhen-2: benign). Altogether, there is not enough evidence to classify the p.Glu248Gly variant with certainty.

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

Last Updated: Mar 4, 2023

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