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NM_006158.5(NEFL):c.48_60dup (p.Thr21fs) AND not provided

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV000057141.1

Allele description [Variation Report for NM_006158.5(NEFL):c.48_60dup (p.Thr21fs)]

NM_006158.5(NEFL):c.48_60dup (p.Thr21fs)

Gene:
NEFL:neurofilament light chain [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
8p21.2
Genomic location:
Preferred name:
NM_006158.5(NEFL):c.48_60dup (p.Thr21fs)
HGVS:
  • NC_000008.11:g.24956457_24956469dup
  • NG_008492.1:g.5150_5162dup
  • NM_006158.5:c.48_60dupMANE SELECT
  • NP_006149.2:p.Thr21fs
  • LRG_259:g.5150_5162dup
  • NC_000008.10:g.24813971_24813983dup
  • NM_006158.2:c.48_60dupGCGCTACGTGGAG
  • NM_006158.3:c.48_60dup13
Protein change:
T21fs
Links:
OMIM: 162280.0005; dbSNP: rs58640772
NCBI 1000 Genomes Browser:
rs58640772
Molecular consequence:
  • NM_006158.5:c.48_60dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000088254Epithelial Biology; Institute of Medical Biology, Singapore
no classification provided
not providednot providednot provided

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot provided1not providedliterature only

Details of each submission

From Epithelial Biology; Institute of Medical Biology, Singapore, SCV000088254.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot providednot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot provided1not providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022