NM_002047.4(GARS1):c.95T>C (p.Leu32Pro) AND Charcot-Marie-Tooth disease

Germline classification:: Benign (1 submission)
Last evaluated:: Oct 1, 2014
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:: RCV000201927.3

Allele description [Variation Report for NM_002047.4(GARS1):c.95T>C (p.Leu32Pro)]

NM_002047.4(GARS1):c.95T>C (p.Leu32Pro)

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.95T>C (p.Leu32Pro)

HGVS:

NC_000007.14:g.30595016T>C
NG_007942.1:g.5452T>C
NM_001316772.1:c.-68T>C
NM_002047.4:c.95T>CMANE SELECT
NP_002038.2:p.Leu32Pro
LRG_243t1:c.95T>C
LRG_243:g.5452T>C
NC_000007.13:g.30634632T>C
NM_002047.2:c.95T>C

Protein change:

L32P

Links:

dbSNP: rs863223328

NCBI 1000 Genomes Browser:

rs863223328

Molecular consequence:

NM_001316772.1:c.-68T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_002047.4:c.95T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Charcot-Marie-Tooth disease
Synonyms:: Charcot-Marie-Tooth Neuropathy
Identifiers:: MONDO: MONDO:0015626; MedGen: C0007959; OMIM: PS118220

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000189425	Dept. of Medical Genetics, Telemark Hospital Trust, Telemark Hospital Trust - Charcot-Marie-Tooth disease study	no assertion criteria provided	Benign (Oct 1, 2014)	inherited	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000189425

Dept. of Medical Genetics, Telemark Hospital Trust, Telemark Hospital Trust - Charcot-Marie-Tooth disease study

no assertion criteria provided

Benign
(Oct 1, 2014)

inherited

research

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Norwegian	inherited	yes	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

Variants in the genes DCTN2, DNAH10, LRIG3, and MYO1A are associated with intermediate Charcot-Marie-Tooth disease in a Norwegian family.

Braathen GJ, Høyer H, Busk ØL, Tveten K, Skjelbred CF, Russell MB.

Acta Neurol Scand. 2016 Jul;134(1):67-75. doi: 10.1111/ane.12515. Epub 2015 Oct 12.

PubMed [citation]

PMID:: 26517670
PMCID:: PMC5057358

PMC

Copy Number Variations in a Population-Based Study of Charcot-Marie-Tooth Disease.

Høyer H, Braathen GJ, Eek AK, Nordang GB, Skjelbred CF, Russell MB.

BioMed Research International. 2015 Jan 8; 2015: 960404

PMC [article]

PMCID:: PMC4306395
PMID:: 25648254
DOI:: 10.1155/2015/960404

Details of each submission

From Dept. of Medical Genetics, Telemark Hospital Trust, Telemark Hospital Trust - Charcot-Marie-Tooth disease study, SCV000189425.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Norwegian	not provided	not provided	not provided	research	PubMed (1)

Description

Present in only four out of five affected family members, seen in one unaffected family member.

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

Last Updated: May 7, 2024

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