NM_130837.3(OPA1):c.*4_*5+2del AND not specified

NM_130837.3(OPA1):c.4_5+2del AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 19, 2024
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:: RCV005057497.1

Allele description [Variation Report for NM_130837.3(OPA1):c.4_5+2del]

NM_130837.3(OPA1):c.4_5+2del

Gene:

OPA1:OPA1 mitochondrial dynamin like GTPase [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

3q29

Genomic location:

Preferred name:

NM_130837.3(OPA1):c.*4_*5+2del

HGVS:

NC_000003.12:g.193692131_193692134del
NG_011605.1:g.103988_103991del
NM_001354663.2:c.*4_*5+2del
NM_001354664.2:c.*4_*5+2del
NM_015560.3:c.*4_*5+2del
NM_015560.3:c.*4_*5+2delAAGT
NM_130831.3:c.*4_*5+2del
NM_130832.3:c.*4_*5+2del
NM_130833.3:c.*4_*5+2del
NM_130834.3:c.*4_*5+2del
NM_130835.3:c.*4_*5+2del
NM_130836.3:c.*4_*5+2del
NM_130837.3:c.*4_*5+2delMANE SELECT
LRG_337:g.103988_103991del
NC_000003.11:g.193409920_193409923del
NM_015560.2:c.*4_*5+2del
NM_015560.3:c.*3_*5+1delTAAG
NM_015560.3:c.*4_*5+2delAAGT

Links:

dbSNP: rs754411271

NCBI 1000 Genomes Browser:

rs754411271

Molecular consequence:

NM_001354663.2:c.*4_*5+2del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001354664.2:c.*4_*5+2del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_015560.3:c.*4_*5+2del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_130831.3:c.*4_*5+2del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_130832.3:c.*4_*5+2del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_130833.3:c.*4_*5+2del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_130834.3:c.*4_*5+2del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_130835.3:c.*4_*5+2del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_130836.3:c.*4_*5+2del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_130837.3:c.*4_*5+2del - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005726191	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Uncertain significance (Nov 19, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005726191

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Uncertain significance
(Nov 19, 2024)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV005726191.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

Variant summary: OPA1 c.*4_*5+2delAAGT is located in the untranslated mRNA region downstream of the termination codon. The variant allele was found at a frequency of 2.7e-05 in 184752 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.*4_*5+2delAAGT in individuals affected with OPA1-Related Disorders and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 1184587). Based on the evidence outlined above, the variant was classified as uncertain significance.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 14, 2025

ClinVar

Relating variation to medicine

Allele description [Variation Report for NM_130837.3(OPA1):c.*4_*5+2del]