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NM_000530.8(MPZ):c.600G>A (p.Gly200=) AND Charcot-Marie-Tooth disease type 4E

Germline classification:
Benign (1 submission)
Last evaluated:
Jun 14, 2016
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:
RCV000303851.6

Allele description [Variation Report for NM_000530.8(MPZ):c.600G>A (p.Gly200=)]

NM_000530.8(MPZ):c.600G>A (p.Gly200=)

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.600G>A (p.Gly200=)
Other names:
p.G200G:GGG>GGA
HGVS:
  • NC_000001.11:g.161306153C>T
  • NG_008055.1:g.8820G>A
  • NM_000530.8:c.600G>AMANE SELECT
  • NM_001315491.2:c.600G>A
  • NP_000521.2:p.Gly200=
  • NP_001302420.1:p.Gly200=
  • LRG_256t1:c.600G>A
  • LRG_256:g.8820G>A
  • NC_000001.10:g.161275943C>T
  • NM_000530.6:c.600G>A
  • p.Gly200Gly
Links:
dbSNP: rs16832790
NCBI 1000 Genomes Browser:
rs16832790
Molecular consequence:
  • NM_000530.8:c.600G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001315491.2:c.600G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Charcot-Marie-Tooth disease type 4E (CHN1)
Synonyms:
CMT 4E; Hypomyelination, severe congenital; Congenital hypomyelinating neuropathy 1, autosomal recessive; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0011527; MedGen: C4721436; Orphanet: 99951; OMIM: 605253

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000350236Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification 20161018)		Benign
(Jun 14, 2016) 		germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

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 Illumina Laboratory Services, Illumina, SCV000350236.2

#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: Sep 29, 2024