NM_002047.4(GARS1):c.1296C>A (p.His432Gln) AND Charcot-Marie-Tooth disease type 2D

Germline classification:: Uncertain significance (1 submission)
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV001795833.1

Allele description [Variation Report for NM_002047.4(GARS1):c.1296C>A (p.His432Gln)]

NM_002047.4(GARS1):c.1296C>A (p.His432Gln)

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.1296C>A (p.His432Gln)

HGVS:

NC_000007.14:g.30617215C>A
NG_007942.1:g.27651C>A
NM_001316772.1:c.1134C>A
NM_002047.4:c.1296C>AMANE SELECT
NP_001303701.1:p.His378Gln
NP_002038.2:p.His432Gln
LRG_243:g.27651C>A
NC_000007.13:g.30656831C>A

Protein change:

H378Q

Links:

dbSNP: rs2128134619

NCBI 1000 Genomes Browser:

rs2128134619

Molecular consequence:

NM_001316772.1:c.1134C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_002047.4:c.1296C>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Charcot-Marie-Tooth disease type 2D (CMT2D)
Synonyms:: CMT 2D; Charcot-Marie-Tooth disease, axonal, Type 2D; Charcot-Marie-Tooth disease, neuronal, Type 2D; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0011091; MedGen: C1832274; Orphanet: 99938; OMIM: 601472

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002037112	Institute of Human Genetics, Cologne University	no assertion criteria provided	Uncertain significance	biparental	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002037112

Institute of Human Genetics, Cologne University

no assertion criteria provided

Uncertain significance

biparental

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	biparental	unknown	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Institute of Human Genetics, Cologne University, SCV002037112.1

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

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

Last Updated: Dec 24, 2023

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