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NM_002437.5(MPV17):c.451dup (p.Leu151fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 19, 2023
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:
RCV001390941.13

Allele description

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)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001592844Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Dec 19, 2023) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

MPV17 mutations in patients with hepatocerebral mitochondrial DNA depletion syndrome.

Kim J, Kang E, Kim Y, Kim JM, Lee BH, Murayama K, Kim GH, Choi IH, Kim KM, Yoo HW.

Mol Genet Metab Rep. 2016 Sep;8:74-6. doi: 10.1016/j.ymgmr.2016.06.006.

PubMed [citation]
PMID:
27536553
PMCID:
PMC4976613

MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects.

El-Hattab AW, Wang J, Dai H, Almannai M, Staufner C, Alfadhel M, Gambello MJ, Prasun P, Raza S, Lyons HJ, Afqi M, Saleh MAM, Faqeih EA, Alzaidan HI, Alshenqiti A, Flore LA, Hertecant J, Sacharow S, Barbouth DS, Murayama K, Shah AA, Lin HC, et al.

Hum Mutat. 2018 Apr;39(4):461-470. doi: 10.1002/humu.23387. Epub 2018 Jan 13.

PubMed [citation]
PMID:
29282788
See all PubMed Citations (3)

Details of each submission

From Invitae, SCV001592844.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This sequence change results in a frameshift in the MPV17 gene (p.Leu151Profs*39). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 26 amino acid(s) of the MPV17 protein and extend the protein by 12 additional amino acid residues. This variant is not present in population databases (gnomAD no frequency). This frameshift has been observed in individuals with mitochondrial DNA depletion syndrome (PMID: 27536553, 29282788). ClinVar contains an entry for this variant (Variation ID: 38356). For these reasons, this variant has been classified as Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 16, 2024