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NM_130837.3(OPA1):c.1377+5del AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Apr 21, 2021
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:
RCV001776633.2

Allele description [Variation Report for NM_130837.3(OPA1):c.1377+5del]

NM_130837.3(OPA1):c.1377+5del

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.1377+5del
HGVS:
  • NC_000003.12:g.193643449del
  • NG_011605.1:g.55306del
  • NM_001354663.2:c.843+5del
  • NM_001354664.2:c.840+5del
  • NM_015560.3:c.1212+5del
  • NM_130831.3:c.1104+5del
  • NM_130832.3:c.1158+5del
  • NM_130833.3:c.1215+5del
  • NM_130834.3:c.1266+5del
  • NM_130835.3:c.1269+5del
  • NM_130836.3:c.1323+5del
  • NM_130837.3:c.1377+5delMANE SELECT
  • LRG_337:g.55306del
  • NC_000003.11:g.193361238del
Links:
dbSNP: rs2109043788
NCBI 1000 Genomes Browser:
rs2109043788
Molecular consequence:
  • NM_001354663.2:c.843+5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354664.2:c.840+5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_015560.3:c.1212+5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_130831.3:c.1104+5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_130832.3:c.1158+5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_130833.3:c.1215+5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_130834.3:c.1266+5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_130835.3:c.1269+5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_130836.3:c.1323+5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_130837.3:c.1377+5del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002013336GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Likely pathogenic
(Apr 21, 2021) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV002013336.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Not observed in large population cohorts (Lek et al., 2016); Intronic +5 splice site variant in a gene for which loss-of-function is a known mechanism of disease, and both splice predictors and evolutionary conservation support a deleterious effect, although in the absence of functional evidence the actual effect of this sequence change is unknown.; Has not been previously published as pathogenic or benign to our knowledge

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 24, 2023