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NM_000530.8(MPZ):c.389A>G (p.Lys130Arg) AND Charcot-Marie-Tooth disease type 1B

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
May 28, 2019
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:
RCV000033918.11

Allele description [Variation Report for NM_000530.8(MPZ):c.389A>G (p.Lys130Arg)]

NM_000530.8(MPZ):c.389A>G (p.Lys130Arg)

Gene:
MPZ:myelin protein zero [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q23.3
Genomic location:
Preferred name:
NM_000530.8(MPZ):c.389A>G (p.Lys130Arg)
HGVS:
  • NC_000001.11:g.161306767T>C
  • NG_008055.1:g.8206A>G
  • NM_000530.8:c.389A>GMANE SELECT
  • NM_001315491.2:c.389A>G
  • NP_000521.2:p.Lys130Arg
  • NP_001302420.1:p.Lys130Arg
  • LRG_256t1:c.389A>G
  • LRG_256:g.8206A>G
  • LRG_256p1:p.Lys130Arg
  • NC_000001.10:g.161276557T>C
  • NM_000530.5:c.419A>G
  • NM_000530.6:c.389A>G
  • P25189:p.Lys130Arg
Protein change:
K130R
Links:
UniProtKB: P25189#VAR_004534; dbSNP: rs281865127
NCBI 1000 Genomes Browser:
rs281865127
Molecular consequence:
  • NM_000530.8:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001315491.2:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Charcot-Marie-Tooth disease type 1B
Synonyms:
CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL DOMINANT, WITH FOCALLY FOLDED MYELIN SHEATHS, TYPE 1B; CHARCOT-MARIE-TOOTH DISEASE, SLOW NERVE CONDUCTION TYPE, LINKED TO DUFFY; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1B; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007307; MedGen: C0270912; Orphanet: 101082; OMIM: 118200

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000057835GeneReviews
no classification provided
not providedgermlineliterature only

SCV001135456Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2017)		Pathogenic
(May 28, 2019) 		unknownclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedliterature only
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneReviews, SCV000057835.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature onlynot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Mendelics, SCV001135456.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 26, 2024