NM_130837.2(OPA1):c.245A>G (p.Tyr82Cys) AND not provided

Clinical significance:Uncertain significance (Last evaluated: May 26, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000594887.1

Allele description [Variation Report for NM_130837.2(OPA1):c.245A>G (p.Tyr82Cys)]

NM_130837.2(OPA1):c.245A>G (p.Tyr82Cys)

Gene:
OPA1:OPA1 mitochondrial dynamin like GTPase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q29
Genomic location:
Preferred name:
NM_130837.2(OPA1):c.245A>G (p.Tyr82Cys)
HGVS:
  • NC_000003.12:g.193614935A>G
  • NG_011605.1:g.26792A>G
  • NM_001354663.2:c.-128A>G
  • NM_001354664.2:c.-128A>G
  • NM_015560.2:c.245A>G
  • NM_130831.3:c.245A>G
  • NM_130832.3:c.245A>G
  • NM_130833.2:c.245A>G
  • NM_130834.3:c.245A>G
  • NM_130835.2:c.245A>G
  • NM_130836.3:c.245A>G
  • NM_130837.2:c.245A>G
  • NP_056375.2:p.Tyr82Cys
  • NP_570844.1:p.Tyr82Cys
  • NP_570845.1:p.Tyr82Cys
  • NP_570846.1:p.Tyr82Cys
  • NP_570847.2:p.Tyr82Cys
  • NP_570848.1:p.Tyr82Cys
  • NP_570849.2:p.Tyr82Cys
  • NP_570850.2:p.Tyr82Cys
  • LRG_337t1:c.245A>G
  • LRG_337t2:c.245A>G
  • LRG_337:g.26792A>G
  • LRG_337p1:p.Tyr82Cys
  • LRG_337p2:p.Tyr82Cys
  • NC_000003.11:g.193332724A>G
Protein change:
Y82C
Links:
dbSNP: rs749063844
NCBI 1000 Genomes Browser:
rs749063844
Molecular consequence:
  • NM_001354663.2:c.-128A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354664.2:c.-128A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_015560.2:c.245A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130831.3:c.245A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130832.3:c.245A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130833.2:c.245A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130834.3:c.245A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130835.2:c.245A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130836.3:c.245A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130837.2:c.245A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000708712EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Uncertain significance
(May 26, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000708712.2

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

Last Updated: Oct 8, 2021

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