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NM_002437.5(MPV17):c.280-1dup AND Charcot-Marie-Tooth disease, axonal, type 2EE

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 28, 2024
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:
RCV003469248.2

Allele description [Variation Report for NM_002437.5(MPV17):c.280-1dup]

NM_002437.5(MPV17):c.280-1dup

Gene:
MPV17:mitochondrial inner membrane protein MPV17 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
2p23.3
Genomic location:
Preferred name:
NM_002437.5(MPV17):c.280-1dup
HGVS:
  • NC_000002.12:g.27312590dup
  • NG_008075.1:g.14980dup
  • NG_033055.1:g.679dup
  • NM_002437.5:c.280-1dupMANE SELECT
  • NM_002437.5:c.284dup
  • NC_000002.11:g.27535451_27535452insC
  • NC_000002.11:g.27535457dup
  • NM_002437.4:c.284dup
  • NM_002437.4:c.284dupG
  • NM_002437.5:c.284dupMANE SELECT
  • NM_002437.5:c.284dupGMANE SELECT
Links:
dbSNP: rs766160589
NCBI 1000 Genomes Browser:
rs766160589
Molecular consequence:
  • NM_002437.5:c.280-1dup - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:
Charcot-Marie-Tooth disease, axonal, type 2EE
Synonyms:
CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2EE
Identifiers:
MONDO: MONDO:0032728; MedGen: C5193076; OMIM: 618400

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004193762Baylor Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Mar 28, 2024) 		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

Details of each submission

From Baylor Genetics, SCV004193762.2

#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: Oct 20, 2024