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NM_002437.5(MPV17):c.451dup (p.Leu151fs) AND Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 21, 2021
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV003227466.8

Allele description [Variation Report for NM_002437.5(MPV17):c.451dup (p.Leu151fs)]

NM_002437.5(MPV17):c.451dup (p.Leu151fs)

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.451dup (p.Leu151fs)
HGVS:
  • NC_000002.12:g.27311913dup
  • NG_008075.1:g.15655dup
  • NG_033055.1:g.1354dup
  • NM_002437.5:c.451dupMANE SELECT
  • NP_002428.1:p.Leu151fs
  • NC_000002.11:g.27534776_27534777insG
  • NC_000002.11:g.27534781dup
  • NM_002437.4:c.451dupC
Protein change:
L151fs
Links:
dbSNP: rs267607267
NCBI 1000 Genomes Browser:
rs267607267
Molecular consequence:
  • NM_002437.5:c.451dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) (MTDPS15)
Synonyms:
Hepatocerebral Mitochondrial DNA Depletion Syndrome
Identifiers:
MONDO: MONDO:0014943; MedGen: C4310690; OMIM: 617156

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002076535Natera, Inc.
no assertion criteria provided
Pathogenic
(Jul 21, 2021) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV002076535.1

#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: Feb 25, 2025