NM_006158.5(NEFL):c.1027_1029del (p.Asp343del) AND Charcot-Marie-Tooth disease, demyelinating, type 1f

Clinical significance:Uncertain significance (Last evaluated: Apr 3, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001196092.1

Allele description [Variation Report for NM_006158.5(NEFL):c.1027_1029del (p.Asp343del)]

NM_006158.5(NEFL):c.1027_1029del (p.Asp343del)

Gene:
NEFL:neurofilament light chain [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
8p21.2
Genomic location:
Preferred name:
NM_006158.5(NEFL):c.1027_1029del (p.Asp343del)
HGVS:
  • NC_000008.11:g.24955488_24955490del
  • NG_008492.1:g.6129_6131del
  • NM_006158.5:c.1027_1029delMANE SELECT
  • NP_006149.2:p.Asp343del
  • LRG_259t1:c.1027_1029del
  • LRG_259:g.6129_6131del
  • NC_000008.10:g.24813002_24813004del
  • NM_006158.4:c.1027_1029delGAC
Protein change:
D343del
Links:
dbSNP: rs1803033172
NCBI 1000 Genomes Browser:
rs1803033172
Molecular consequence:
  • NM_006158.5:c.1027_1029del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:
Charcot-Marie-Tooth disease, demyelinating, type 1f (CMT1F)
Synonyms:
CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1F; CMT 1F; Charcot-Marie-Tooth disease, type 1F
Identifiers:
MONDO: MONDO:0011902; MedGen: C1843164; Orphanet: 101085; OMIM: 607734

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001366547Centre for Mendelian Genomics,University Medical Centre Ljubljanacriteria provided, single submitter
Uncertain significance
(Apr 3, 2019)
unknownclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedclinical 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 Centre for Mendelian Genomics,University Medical Centre Ljubljana, SCV001366547.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This variant was classified as: Uncertain significance. The available evidence favors the pathogenic nature of this variant, however the currently available data is insufficient to conclusively support its pathogenic nature. Thus this variant is classified as Uncertain significance - favor pathogenic. The following ACMG criteria were applied in classifying this variant: PM2.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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