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NM_025152.3(NUBPL):c.313G>T (p.Asp105Tyr) AND Inborn genetic diseases

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jun 22, 2017
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:
RCV000624409.2

Allele description [Variation Report for NM_025152.3(NUBPL):c.313G>T (p.Asp105Tyr)]

NM_025152.3(NUBPL):c.313G>T (p.Asp105Tyr)

Gene:
NUBPL:NUBP iron-sulfur cluster assembly factor, mitochondrial [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q12
Genomic location:
Preferred name:
NM_025152.3(NUBPL):c.313G>T (p.Asp105Tyr)
HGVS:
  • NC_000014.9:g.31599310G>T
  • NG_028349.1:g.42926G>T
  • NM_001201573.2:c.25G>T
  • NM_025152.3:c.313G>TMANE SELECT
  • NP_001188502.1:p.Asp9Tyr
  • NP_079428.2:p.Asp105Tyr
  • NC_000014.8:g.32068516G>T
  • NM_025152.2:c.313G>T
  • NR_120408.2:n.349G>T
  • Q8TB37:p.Asp105Tyr
  • p.D105Y
Protein change:
D105Y; ASP105TYR
Links:
UniProtKB: Q8TB37#VAR_069767; OMIM: 613621.0004; dbSNP: rs397515440
NCBI 1000 Genomes Browser:
rs397515440
Molecular consequence:
  • NM_001201573.2:c.25G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_025152.3:c.313G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_120408.2:n.349G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000742092Ambry Genetics
criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))
Likely pathogenic
(Jun 22, 2017)
germlineclinical testing

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Caucasiangermlineyes1not providednot provided1not providedclinical testing

Citations

PubMed

NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern.

Kevelam SH, Rodenburg RJ, Wolf NI, Ferreira P, Lunsing RJ, Nijtmans LG, Mitchell A, Arroyo HA, Rating D, Vanderver A, van Berkel CG, Abbink TE, Heutink P, van der Knaap MS.

Neurology. 2013 Apr 23;80(17):1577-83. doi: 10.1212/WNL.0b013e31828f1914. Epub 2013 Apr 3.

PubMed [citation]
PMID:
23553477
PMCID:
PMC3662327

Details of each submission

From Ambry Genetics, SCV000742092.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Caucasian1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Jan 7, 2023