NM_014402.4(UQCRQ):c.108C>G (p.Pro36=) AND not provided

Clinical significance:Benign (Last evaluated: Feb 8, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000677089.1

Allele description [Variation Report for NM_014402.4(UQCRQ):c.108C>G (p.Pro36=)]

NM_014402.4(UQCRQ):c.108C>G (p.Pro36=)

Gene:
UQCRQ:ubiquinol-cytochrome c reductase complex III subunit VII [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q31.1
Genomic location:
Preferred name:
NM_014402.4(UQCRQ):c.108C>G (p.Pro36=)
Other names:
p.P36P:CCC>CCG
HGVS:
  • NC_000005.10:g.132866989C>G
  • NG_012221.1:g.5363C>G
  • NM_014402.4:c.108C>G
  • NP_055217.2:p.Pro36=
  • NC_000005.9:g.132202681C>G
  • p.Pro36Pro
Links:
dbSNP: rs36093416
NCBI 1000 Genomes Browser:
rs36093416
Molecular consequence:
  • NM_014402.4:c.108C>G - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000802928Mayo Clinic Genetic Testing Laboratories,Mayo Clinicno assertion criteria providedLikely benign
(Sep 15, 2017)
unknownclinical testing

SCV000884830ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratoriescriteria provided, single submitter
Benign
(Feb 8, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Mayo Clinic Genetic Testing Laboratories,Mayo Clinic, SCV000802928.1

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

From ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories, SCV000884830.1

#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: Mar 30, 2019

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