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NM_000530.8(MPZ):c.449-2A>G AND Charcot-Marie-Tooth disease type 1B

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 4, 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:
RCV002249103.1

Allele description [Variation Report for NM_000530.8(MPZ):c.449-2A>G]

NM_000530.8(MPZ):c.449-2A>G

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.449-2A>G
HGVS:
  • NC_000001.11:g.161306466T>C
  • NG_008055.1:g.8507A>G
  • NM_000530.8:c.449-2A>GMANE SELECT
  • NM_001315491.2:c.449-2A>G
  • LRG_256:g.8507A>G
  • NC_000001.10:g.161276256T>C
Links:
dbSNP: rs2102258343
NCBI 1000 Genomes Browser:
rs2102258343
Molecular consequence:
  • NM_000530.8:c.449-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001315491.2:c.449-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]

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
SCV002517323Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2019)		Likely pathogenic
(May 4, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Mendelics, SCV002517323.1

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

Last Updated: Dec 24, 2023