NM_015560.2(OPA1):c.870+5G>A AND not provided

Clinical significance:Likely pathogenic (Last evaluated: Apr 28, 2017)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000498640.1

Allele description [Variation Report for NM_015560.2(OPA1):c.870+5G>A]

NM_015560.2(OPA1):c.870+5G>A

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.870+5G>A
HGVS:
  • NC_000003.12:g.193637286G>A
  • NG_011605.1:g.49143G>A
  • NM_015560.2:c.870+5G>A
  • NM_130837.2:c.1035+5G>A
  • LRG_337t1:c.870+5G>A
  • LRG_337t2:c.1035+5G>A
  • LRG_337:g.49143G>A
  • NC_000003.11:g.193355075G>A
Links:
dbSNP: rs754576717
NCBI 1000 Genomes Browser:
rs754576717
Molecular consequence:
  • NM_015560.2:c.870+5G>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Identifiers:
MedGen: CN517202

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000589519GeneDxcriteria provided, single submitter
Likely pathogenic
(Jun 10, 2016)
germlineclinical testing

Citation Link,

SCV000614391Athena Diagnostics Inccriteria provided, single submitter
Likely pathogenic
(Apr 28, 2017)
germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy.

Toomes C, Marchbank NJ, Mackey DA, Craig JE, Newbury-Ecob RA, Bennett CP, Vize CJ, Desai SP, Black GC, Patel N, Teimory M, Markham AF, Inglehearn CF, Churchill AJ.

Hum Mol Genet. 2001 Jun 15;10(13):1369-78.

PubMed [citation]
PMID:
11440989

A multiple sclerosis-like disorder in patients with OPA1 mutations.

Yu-Wai-Man P, Spyropoulos A, Duncan HJ, Guadagno JV, Chinnery PF.

Ann Clin Transl Neurol. 2016 Sep;3(9):723-9. doi: 10.1002/acn3.323.

PubMed [citation]
PMID:
27656661
PMCID:
PMC5018584
See all PubMed Citations (4)

Details of each submission

From GeneDx, SCV000589519.3

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

Description

The c.870+5 G>A variant has been previously reported in association with optic atrophy (Toomes et al., 2001; Baris et al., 2003; Yu-Wai-Man et al., 2010). Siblings harboring the c.870+5 G>A variant presented with optic atrophy, myopathy, neuropathy, and migraines (Yu-Wai-Man et al., 2010). The c.870+5 G>A (denoted c.1035+5 G>A by alternative transcript) has been described in an individual diagnosed with optic atrophy at age 47; the variant segregated with visual problems in the family (Oldak et al., 2014). The 870+5 G>A variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The c.870+5 G>A variant reduces the quality of the splice donor site in intron 8, and is expected to cause abnormal gene splicing. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.

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

From Athena Diagnostics Inc, SCV000614391.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 17, 2019

Support Center