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NM_006158.5(NEFL):c.23C>G (p.Pro8Arg) AND not provided

Germline classification:
Likely pathogenic (2 submissions)
Last evaluated:
May 6, 2022
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:
RCV000057131.4

Allele description [Variation Report for NM_006158.5(NEFL):c.23C>G (p.Pro8Arg)]

NM_006158.5(NEFL):c.23C>G (p.Pro8Arg)

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.23C>G (p.Pro8Arg)
HGVS:
  • NC_000008.11:g.24956493G>C
  • NG_008492.1:g.5125C>G
  • NM_006158.5:c.23C>GMANE SELECT
  • NP_006149.2:p.Pro8Arg
  • NP_006149.2:p.Pro8Arg
  • LRG_259t1:c.23C>G
  • LRG_259:g.5125C>G
  • LRG_259p1:p.Pro8Arg
  • NC_000008.10:g.24814007G>C
  • NM_006158.2:c.23C>G
  • NM_006158.3:c.23C>G
  • NM_006158.4:c.23C>G
  • P07196:p.Pro8Arg
Protein change:
P8R
Links:
UniProtKB: P07196#VAR_016020; dbSNP: rs61491953
NCBI 1000 Genomes Browser:
rs61491953
Molecular consequence:
  • NM_006158.5:c.23C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000088244Epithelial Biology; Institute of Medical Biology, Singapore
no classification provided
not providednot providednot provided

SCV003816906Revvity Omics, Revvity
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(May 6, 2022) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providednot providednot providednot providednot providednot provided1not providedliterature only

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 Epithelial Biology; Institute of Medical Biology, Singapore, SCV000088244.1

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

From Revvity Omics, Revvity, SCV003816906.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024