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NM_005932.4(MIPEP):c.1970+2T>A AND Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 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:
RCV001797815.1

Allele description [Variation Report for NM_005932.4(MIPEP):c.1970+2T>A]

NM_005932.4(MIPEP):c.1970+2T>A

Gene:
MIPEP:mitochondrial intermediate peptidase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q12.12
Genomic location:
Preferred name:
NM_005932.4(MIPEP):c.1970+2T>A
HGVS:
  • NC_000013.11:g.23760094A>T
  • NG_052977.1:g.134355T>A
  • NG_052977.2:g.134306T>A
  • NM_005932.4:c.1970+2T>AMANE SELECT
  • NC_000013.10:g.24334233A>T
  • NM_005932.3:c.1970+2T>A
Nucleotide change:
IVS17DS, T-A, +2 (rs773688171)
Links:
OMIM: 602241.0007; dbSNP: rs773688171
NCBI 1000 Genomes Browser:
rs773688171
Molecular consequence:
  • NM_005932.4:c.1970+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
Synonyms:
Combined oxidative phosphorylation deficiency 31
Identifiers:
MONDO: MONDO:0014976; MedGen: C4310661; OMIM: 617228

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002039198OMIM
no assertion criteria provided
Pathogenic
(Dec 21, 2021) 		germlineliterature only

Pulman, J., Ruzzenente, B., Horak, M., Barcia, G., Boddaert, N., Munnich, A., Rotig, A., Metodiev, M. D. Variants in the MIPEP gene presenting with complex neurological phenotype without cardiomyopathy, impair OXPHOS protein maturation and lead to a reduced OXPHOS abundance in patient cells. Molec. Genet. Metab. 134: 267-273, 2021.

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Details of each submission

From OMIM, SCV002039198.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature onlynot provided

Description

For discussion of the c.1970+2T-A transversion (c.1970+2T-A, NM_005932.3) in intron 17 of the MIPEP gene, predicted to result in a frameshift and premature termination (Ala658fsTer38), that was found in compound heterozygous state in a patient with combined oxidative phosphorylation deficiency-31 (COXPD31; 617228) by Pulman et al. (2021), see 602241.0003.

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

Last Updated: Sep 29, 2024