NM_015560.2(OPA1):c.2354A>G (p.Gln785Arg) AND not provided

Clinical significance:Likely pathogenic (Last evaluated: Nov 30, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000488050.1

Allele description [Variation Report for NM_015560.2(OPA1):c.2354A>G (p.Gln785Arg)]

NM_015560.2(OPA1):c.2354A>G (p.Gln785Arg)

Gene:
OPA1:OPA1 mitochondrial dynamin like GTPase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q29
Genomic location:
Preferred name:
NM_015560.2(OPA1):c.2354A>G (p.Gln785Arg)
HGVS:
  • NC_000003.12:g.193659560A>G
  • NG_011605.1:g.71417A>G
  • NM_001354663.2:c.1985A>G
  • NM_001354664.2:c.1982A>G
  • NM_015560.2:c.2354A>G
  • NM_130831.3:c.2246A>G
  • NM_130832.3:c.2300A>G
  • NM_130833.2:c.2357A>G
  • NM_130834.3:c.2408A>G
  • NM_130835.2:c.2411A>G
  • NM_130836.3:c.2465A>G
  • NM_130837.2:c.2519A>G
  • NP_001341592.1:p.Gln662Arg
  • NP_001341593.1:p.Gln661Arg
  • NP_056375.2:p.Gln785Arg
  • NP_570844.1:p.Gln749Arg
  • NP_570845.1:p.Gln767Arg
  • NP_570846.1:p.Gln786Arg
  • NP_570847.2:p.Gln803Arg
  • NP_570848.1:p.Gln804Arg
  • NP_570849.2:p.Gln822Arg
  • NP_570850.2:p.Gln840Arg
  • LRG_337t1:c.2354A>G
  • LRG_337t2:c.2519A>G
  • LRG_337:g.71417A>G
  • LRG_337p1:p.Gln785Arg
  • LRG_337p2:p.Gln840Arg
  • NC_000003.11:g.193377349A>G
Protein change:
Q661R
Links:
dbSNP: rs1064797302
NCBI 1000 Genomes Browser:
rs1064797302
Molecular consequence:
  • NM_001354663.2:c.1985A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354664.2:c.1982A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015560.2:c.2354A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130831.3:c.2246A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130832.3:c.2300A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130833.2:c.2357A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130834.3:c.2408A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130835.2:c.2411A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130836.3:c.2465A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130837.2:c.2519A>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
SCV000575384CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Likely pathogenic
(Nov 30, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV000575384.5

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

Last Updated: Feb 25, 2021

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