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NM_000530.8(MPZ):c.371C>T (p.Thr124Met) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 31, 2018
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:
RCV000763262.10

Allele description [Variation Report for NM_000530.8(MPZ):c.371C>T (p.Thr124Met)]

NM_000530.8(MPZ):c.371C>T (p.Thr124Met)

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.371C>T (p.Thr124Met)
HGVS:
  • NC_000001.11:g.161306785G>A
  • NG_008055.1:g.8188C>T
  • NM_000530.8:c.371C>TMANE SELECT
  • NM_001315491.2:c.371C>T
  • NP_000521.2:p.Thr124Met
  • NP_000521.2:p.Thr124Met
  • NP_001302420.1:p.Thr124Met
  • LRG_256t1:c.371C>T
  • LRG_256:g.8188C>T
  • LRG_256p1:p.Thr124Met
  • NC_000001.10:g.161276575G>A
  • NM_000530.5:c.401C>T
  • NM_000530.6:c.371C>T
  • NM_000530.7:c.371C>T
  • NP_000521.1:p.Thr134Met
  • P25189:p.Thr124Met
Protein change:
T124M; THR124MET
Links:
UniProtKB: P25189#VAR_004529; OMIM: 159440.0016; dbSNP: rs121913595
NCBI 1000 Genomes Browser:
rs121913595
Molecular consequence:
  • NM_000530.8:c.371C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001315491.2:c.371C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Charcot-Marie-Tooth disease type 2I (CMT2I)
Synonyms:
CMT 2I; Charcot-Marie-Tooth disease, axonal, Type 2I
Identifiers:
MONDO: MONDO:0011889; MedGen: C3888087; Orphanet: 99942; OMIM: 607677
Name:
Charcot-Marie-Tooth disease type 2J (CMT2J)
Synonyms:
CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2J; CMT 2J; Charcot-Marie-Tooth disease, axonal, Type 2J; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0011903; MedGen: C1843153; Orphanet: 99943; OMIM: 607736
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
Name:
Charcot-Marie-Tooth disease dominant intermediate D
Synonyms:
CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE D; Charcot-Marie-Tooth disease dominant intermediate 3; CMT DI3
Identifiers:
MONDO: MONDO:0011909; MedGen: C1843075; OMIM: 607791
Name:
Roussy-Lévy syndrome
Synonyms:
Roussy-Levy Syndrome; Roussy Levy hereditary areflexic dystasia; Roussy-Levy disease; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008392; MedGen: C0205713; Orphanet: 3115; OMIM: 180800
Name:
Dejerine-Sottas disease
Synonyms:
HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPE III; HMSN Type III; Hypertrophic neuropathy of Dejerine-Sottas; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007790; MedGen: C0011195; Orphanet: 64748; OMIM: 145900
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
SCV000893900Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Oct 31, 2018) 		unknownclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753
PMC

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL.

Genetics in medicine : official journal of the American College of Medical Genetics. 2015 Mar 5; 17(5): 405-424

PMC [article]
PMCID:
PMC4544753
PMID:
25741868
DOI:
10.1038/gim.2015.30

Details of each submission

From Fulgent Genetics, Fulgent Genetics, SCV000893900.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 20, 2024