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NM_181882.3(PRX):c.3685C>T (p.Arg1229Ter) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Oct 7, 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:
RCV003221503.1

Allele description [Variation Report for NM_181882.3(PRX):c.3685C>T (p.Arg1229Ter)]

NM_181882.3(PRX):c.3685C>T (p.Arg1229Ter)

Gene:
PRX:periaxin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.2
Genomic location:
Preferred name:
NM_181882.3(PRX):c.3685C>T (p.Arg1229Ter)
HGVS:
  • NC_000019.10:g.40394667G>A
  • NG_007979.1:g.23698C>T
  • NG_051224.1:g.555C>T
  • NM_001411127.1:c.3970C>T
  • NM_020956.2:c.*3890C>T
  • NM_181882.3:c.3685C>TMANE SELECT
  • NP_001398056.1:p.Arg1324Ter
  • NP_870998.2:p.Arg1229Ter
  • NP_870998.2:p.Arg1229Ter
  • LRG_265t1:c.*3890C>T
  • LRG_265t2:c.3685C>T
  • LRG_265:g.23698C>T
  • LRG_265p2:p.Arg1229Ter
  • NC_000019.9:g.40900574G>A
  • NM_181882.2:c.3685C>T
Protein change:
R1229*
Molecular consequence:
  • NM_020956.2:c.*3890C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001411127.1:c.3970C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_181882.3:c.3685C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003918276GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Likely pathogenic
(Oct 7, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV003918276.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Reported previously in a patient with childhood-onset demyelinating CMT who also harbored a second variant in the gene (phase unknown) (Machado et al., 2022); Reported previously as a pathogenic variant in a cohort of individuals referred for genetic testing for Charcot-Marie-Tooth disease; however, no clinical information was provided (DiVincenzo et al., 2014); Nonsense variant predicted to result in protein truncation, as the last 233 amino acids are lost, and other loss-of-function variants have been reported downstream in HGMD; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 28641335, 25614874, Machado2022[CaseReport])

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

Last Updated: Apr 23, 2023