NM_004990.4(MARS1):c.280-14C>T AND Charcot-Marie-Tooth disease

Germline classification:: Benign (1 submission)
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:: RCV001174279.9

Allele description [Variation Report for NM_004990.4(MARS1):c.280-14C>T]

NM_004990.4(MARS1):c.280-14C>T

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.280-14C>T

HGVS:

NC_000012.12:g.57489410C>T
NG_023205.2:g.4405G>A
NG_034077.1:g.6458C>T
NM_004990.4:c.280-14C>TMANE SELECT
NC_000012.11:g.57883193C>T
NM_004990.3:c.280-14C>T

Links:

dbSNP: rs183195960

NCBI 1000 Genomes Browser:

rs183195960

Molecular consequence:

NM_004990.4:c.280-14C>T - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

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

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Thromboangiitis Obliterans
Thromboangiitis Obliterans
A non-atherosclerotic, inflammatory thrombotic disease that commonly involves small and medium-sized arteries or veins in the extremities. It is characterized by occlusive THR...<br/>

MeSH
Foot Joints
Foot Joints
The articulations extending from the ANKLE distally to the TOES. These include the ANKLE JOINT; TARSAL JOINTS; METATARSOPHALANGEAL JOINT; and TOE JOINT....<br/>Year introduced: 2003

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001337409	Molecular Genetics Laboratory, London Health Sciences Centre	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001337409

Molecular Genetics Laboratory, London Health Sciences Centre

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign

germline

clinical testing

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

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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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Molecular Genetics Laboratory, London Health Sciences Centre, SCV001337409.1

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

#	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: Oct 26, 2024

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