NM_006158.5(NEFL):c.423G>A (p.Gln141=) AND not specified

Germline classification:: Benign (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:: RCV000609209.3

Allele description [Variation Report for NM_006158.5(NEFL):c.423G>A (p.Gln141=)]

NM_006158.5(NEFL):c.423G>A (p.Gln141=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

8p21.2

Genomic location:

Preferred name:

NM_006158.5(NEFL):c.423G>A (p.Gln141=)

HGVS:

NC_000008.11:g.24956093C>T
NG_008492.1:g.5525G>A
NM_006158.5:c.423G>AMANE SELECT
NP_006149.2:p.Gln141=
NP_006149.2:p.Gln141=
LRG_259t1:c.423G>A
LRG_259:g.5525G>A
LRG_259p1:p.Gln141=
NC_000008.10:g.24813607C>T
NM_006158.2:c.423G>A
NM_006158.3:c.423G>A
NM_006158.4:c.423G>A

Links:

dbSNP: rs59161567

NCBI 1000 Genomes Browser:

rs59161567

Molecular consequence:

NM_006158.5:c.423G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000928961	Inherited Neuropathy Consortium	no assertion criteria provided	Benign	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000928961

Inherited Neuropathy Consortium

no assertion criteria provided

Benign

germline

literature only

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	literature only

Citations

PubMed

Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease.

Jordanova A, De Jonghe P, Boerkoel CF, Takashima H, De Vriendt E, Ceuterick C, Martin JJ, Butler IJ, Mancias P, Papasozomenos SCh, Terespolsky D, Potocki L, Brown CW, Shy M, Rita DA, Tournev I, Kremensky I, Lupski JR, Timmerman V.

Brain. 2003 Mar;126(Pt 3):590-7.

PubMed [citation]

PMID:: 12566280

Details of each submission

From Inherited Neuropathy Consortium, SCV000928961.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	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: Sep 29, 2024

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