NM_006158.4(NEFL):c.803T>C (p.Leu268Pro) AND Charcot-Marie-Tooth disease type 2E

replaced

Germline classification:: Pathogenic (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:: RCV001007466.1

Allele description

NM_006158.4(NEFL):c.803T>C (p.Leu268Pro)

Gene:

NEFL:neurofilament light chain [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8p21.2

Genomic location:

Preferred name:

NM_006158.4(NEFL):c.803T>C (p.Leu268Pro)

HGVS:

NC_000008.11:g.24955713A>G
NG_008492.1:g.5905T>C
NM_006158.4:c.803T>C
NP_006149.2:p.Leu268Pro
LRG_259t1:c.803T>C
LRG_259:g.5905T>C
LRG_259p1:p.Leu268Pro
NC_000008.10:g.24813227A>G
NM_006158.3:c.803T>C

Protein change:

L268P

Links:

dbSNP: rs62636502

NCBI 1000 Genomes Browser:

rs62636502

Molecular consequence:

NM_006158.4:c.803T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Charcot-Marie-Tooth disease type 2E (CMT2E)
Synonyms:: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2E; CMT 2E; Charcot-Marie-Tooth disease, axonal, Type 2E
Identifiers:: MONDO: MONDO:0011894; MedGen: C1843225; Orphanet: 99939; OMIM: 607684

Recent activity

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KLTH0H00550p [Lachancea thermotolerans CBS 6340]
KLTH0H00550p [Lachancea thermotolerans CBS 6340]
gi|255719246|ref|XP_002555903.1|

Protein
hypothetical protein [Salmonella phage 29485]
hypothetical protein [Salmonella phage 29485]
gi|1168037637|gb|ARB10864.1|

Protein
Bcat1 branched chain aminotransferase 1, cytosolic [Mus musculus]
Bcat1 branched chain aminotransferase 1, cytosolic [Mus musculus]
Gene ID:12035

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001167079	Kariminejad - Najmabadi Pathology & Genetics Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic	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

SCV001167079

Kariminejad - Najmabadi Pathology & Genetics Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic

germline

clinical testing

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
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 Kariminejad - Najmabadi Pathology & Genetics Center, SCV001167079.1

#	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: Apr 13, 2021

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