NM_015560.2(OPA1):c.1847+1G>T AND not provided

Clinical significance:Pathogenic (Last evaluated: Jul 16, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000497677.3

Allele description [Variation Report for NM_015560.2(OPA1):c.1847+1G>T]

NM_015560.2(OPA1):c.1847+1G>T

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.1847+1G>T
HGVS:
  • NC_000003.12:g.193648872G>T
  • NG_011605.1:g.60729G>T
  • NM_001354663.2:c.1478+1G>T
  • NM_001354664.2:c.1475+1G>T
  • NM_015560.2:c.1847+1G>T
  • NM_130831.3:c.1739+1G>T
  • NM_130832.3:c.1793+1G>T
  • NM_130833.2:c.1850+1G>T
  • NM_130834.3:c.1901+1G>T
  • NM_130835.2:c.1904+1G>T
  • NM_130836.3:c.1958+1G>T
  • NM_130837.2:c.2012+1G>T
  • LRG_337t1:c.1847+1G>T
  • LRG_337t2:c.2012+1G>T
  • LRG_337:g.60729G>T
  • NC_000003.11:g.193366661G>T
Links:
dbSNP: rs863224134
NCBI 1000 Genomes Browser:
rs863224134
Molecular consequence:
  • NM_001354663.2:c.1478+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001354664.2:c.1475+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_015560.2:c.1847+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_130831.3:c.1739+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_130832.3:c.1793+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_130833.2:c.1850+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_130834.3:c.1901+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_130835.2:c.1904+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_130836.3:c.1958+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_130837.2:c.2012+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000589520GeneDxcriteria provided, single submitter
Pathogenic
(Jul 16, 2021)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000589520.3

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

Description

Canonical splice site variant predicted to result in a null allele in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 19319978, 32483926, 30831606, 25525159)

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

Last Updated: Sep 26, 2021

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