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NM_130837.3(OPA1):c.1466T>C (p.Leu489Pro) AND Auditory neuropathy spectrum disorder

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Nov 13, 2021
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:
RCV003984843.2

Allele description [Variation Report for NM_130837.3(OPA1):c.1466T>C (p.Leu489Pro)]

NM_130837.3(OPA1):c.1466T>C (p.Leu489Pro)

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.1466T>C (p.Leu489Pro)
HGVS:
  • NC_000003.12:g.193643616T>C
  • NG_011605.1:g.55473T>C
  • NM_001354663.2:c.932T>C
  • NM_001354664.2:c.929T>C
  • NM_015560.3:c.1301T>C
  • NM_130831.3:c.1193T>C
  • NM_130832.3:c.1247T>C
  • NM_130833.3:c.1304T>C
  • NM_130834.3:c.1355T>C
  • NM_130835.3:c.1358T>C
  • NM_130836.3:c.1412T>C
  • NM_130837.3:c.1466T>CMANE SELECT
  • NP_001341592.1:p.Leu311Pro
  • NP_001341593.1:p.Leu310Pro
  • NP_056375.2:p.Leu434Pro
  • NP_056375.2:p.Leu434Pro
  • NP_570844.1:p.Leu398Pro
  • NP_570845.1:p.Leu416Pro
  • NP_570846.1:p.Leu435Pro
  • NP_570847.2:p.Leu452Pro
  • NP_570848.1:p.Leu453Pro
  • NP_570849.2:p.Leu471Pro
  • NP_570850.2:p.Leu489Pro
  • LRG_337t1:c.1301T>C
  • LRG_337:g.55473T>C
  • LRG_337p1:p.Leu434Pro
  • NC_000003.11:g.193361405T>C
  • NM_015560.2:c.1301T>C
Protein change:
L310P
Links:
dbSNP: rs1553877946
NCBI 1000 Genomes Browser:
rs1553877946
Molecular consequence:
  • NM_001354663.2:c.932T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354664.2:c.929T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015560.3:c.1301T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130831.3:c.1193T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130832.3:c.1247T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130833.3:c.1304T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130834.3:c.1355T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130835.3:c.1358T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130836.3:c.1412T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130837.3:c.1466T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Auditory neuropathy spectrum disorder
Identifiers:
MedGen: C2732267

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004801107Department of Otolaryngology, Head and Neck Surgery, Beijing Friendship Hospital, Capital Medical University
no assertion criteria provided
Likely pathogenic
(Nov 13, 2021) 		maternalclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Asianmaternalyesnot providednot providednot providednot providedyesclinical testing

Details of each submission

From Department of Otolaryngology, Head and Neck Surgery, Beijing Friendship Hospital, Capital Medical University, SCV004801107.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Asiannot providednot providedyesclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providedBloodvalidationnot providednot providednot providednot provided

Last Updated: Sep 29, 2024