NM_130837.3(OPA1):c.1366G>C (p.Gly456Arg) AND Auditory neuropathy

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 22, 2023
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:
RCV003484499.1

Allele description [Variation Report for NM_130837.3(OPA1):c.1366G>C (p.Gly456Arg)]

NM_130837.3(OPA1):c.1366G>C (p.Gly456Arg)

Gene:
OPA1:OPA1 mitochondrial dynamin like GTPase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q29
Genomic location:
Preferred name:
NM_130837.3(OPA1):c.1366G>C (p.Gly456Arg)
HGVS:
  • NC_000003.12:g.193643433G>C
  • NG_011605.1:g.55290G>C
  • NM_001354663.2:c.832G>C
  • NM_001354664.2:c.829G>C
  • NM_015560.3:c.1201G>C
  • NM_130831.3:c.1093G>C
  • NM_130832.3:c.1147G>C
  • NM_130833.3:c.1204G>C
  • NM_130834.3:c.1255G>C
  • NM_130835.3:c.1258G>C
  • NM_130836.3:c.1312G>C
  • NM_130837.3:c.1366G>CMANE SELECT
  • NP_001341592.1:p.Gly278Arg
  • NP_001341593.1:p.Gly277Arg
  • NP_056375.2:p.Gly401Arg
  • NP_056375.2:p.Gly401Arg
  • NP_570844.1:p.Gly365Arg
  • NP_570845.1:p.Gly383Arg
  • NP_570846.1:p.Gly402Arg
  • NP_570847.2:p.Gly419Arg
  • NP_570848.1:p.Gly420Arg
  • NP_570849.2:p.Gly438Arg
  • NP_570850.2:p.Gly456Arg
  • NP_570850.2:p.Gly456Arg
  • LRG_337t1:c.1201G>C
  • LRG_337t2:c.1366G>C
  • LRG_337:g.55290G>C
  • LRG_337p1:p.Gly401Arg
  • LRG_337p2:p.Gly456Arg
  • NC_000003.11:g.193361222G>C
  • NM_015560.2:c.1201G>C
  • NM_130837.2:c.1366G>C
Protein change:
G277R
Molecular consequence:
  • NM_001354663.2:c.832G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354664.2:c.829G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015560.3:c.1201G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130831.3:c.1093G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130832.3:c.1147G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130833.3:c.1204G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130834.3:c.1255G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130835.3:c.1258G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130836.3:c.1312G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130837.3:c.1366G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Auditory neuropathy
Synonyms:
Auditory dys-synchrony
Identifiers:
MONDO: MONDO:0021944; MedGen: C1852271; OMIM: PS609129

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004229037WangQJ Lab, Chinese People's Liberation Army General Hospital
criteria provided, single submitter

(Submitter's publication)		Pathogenic
(Dec 22, 2023) 		germlineresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Asiangermlineyes1not providednot providednot providednot providedresearch

Details of each submission

From WangQJ Lab, Chinese People's Liberation Army General Hospital, SCV004229037.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Asian1not providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Feb 4, 2024