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NM_181882.3(PRX):c.2421del (p.Lys808fs) AND Charcot-Marie-Tooth disease

Germline classification:
Uncertain significance (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:
RCV000789542.1

Allele description [Variation Report for NM_181882.3(PRX):c.2421del (p.Lys808fs)]

NM_181882.3(PRX):c.2421del (p.Lys808fs)

Gene:
PRX:periaxin [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
19q13.2
Genomic location:
Preferred name:
NM_181882.3(PRX):c.2421del (p.Lys808fs)
HGVS:
  • NC_000019.10:g.40395933del
  • NG_007979.1:g.22434del
  • NM_020956.2:c.*2626del
  • NM_181882.3:c.2421delMANE SELECT
  • NP_870998.2:p.Lys808fs
  • LRG_265t1:c.*2626del
  • LRG_265:g.22434del
  • NC_000019.9:g.40901840del
  • NM_181882.2:c.2421delC
Protein change:
K808fs
Links:
dbSNP: rs1599652935
NCBI 1000 Genomes Browser:
rs1599652935
Molecular consequence:
  • NM_020956.2:c.*2626del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_181882.3:c.2421del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Charcot-Marie-Tooth disease
Synonyms:
Charcot-Marie-Tooth Neuropathy
Identifiers:
MONDO: MONDO:0015626; MedGen: C0007959; OMIM: PS118220

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000928898Inherited Neuropathy Consortium
no assertion criteria provided
Uncertain significancegermlineliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

Four novel cases of periaxin-related neuropathy and review of the literature.

Marchesi C, Milani M, Morbin M, Cesani M, Lauria G, Scaioli V, Piccolo G, Fabrizi GM, Cavallaro T, Taroni F, Pareyson D.

Neurology. 2010 Nov 16;75(20):1830-8. doi: 10.1212/WNL.0b013e3181fd6314. Review.

PubMed [citation]
PMID:
21079185

Details of each submission

From Inherited Neuropathy Consortium, SCV000928898.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022