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NM_003366.4(UQCRC2):c.437T>C (p.Phe146Ser) AND Mitochondrial complex III deficiency nuclear type 5

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 6, 2023
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:
RCV003159578.1

Allele description [Variation Report for NM_003366.4(UQCRC2):c.437T>C (p.Phe146Ser)]

NM_003366.4(UQCRC2):c.437T>C (p.Phe146Ser)

Genes:
PDZD9:PDZ domain containing 9 [Gene - HGNC]
UQCRC2:ubiquinol-cytochrome c reductase core protein 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p12.2
Genomic location:
Preferred name:
NM_003366.4(UQCRC2):c.437T>C (p.Phe146Ser)
HGVS:
  • NC_000016.10:g.21962808T>C
  • NG_042228.1:g.14745T>C
  • NM_003366.4:c.437T>CMANE SELECT
  • NP_003357.2:p.Phe146Ser
  • NC_000016.9:g.21974129T>C
  • NM_003366.2:c.437T>C
Protein change:
F146S
Molecular consequence:
  • NM_003366.4:c.437T>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Mitochondrial complex III deficiency nuclear type 5
Identifiers:
MONDO: MONDO:0014066; MedGen: C3554608; OMIM: 615160

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003853320Genetic and Metabolic Disease Program, Children's Medical Center Research Institute, UT Southwestern Medical Center at Dallas
no assertion criteria provided
Uncertain significance
(Apr 6, 2023) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Genetic and Metabolic Disease Program, Children's Medical Center Research Institute, UT Southwestern Medical Center at Dallas, SCV003853320.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Apr 15, 2023