NM_130837.3(OPA1):c.2661+1G>A AND Inborn genetic diseases

Clinical significance:Pathogenic (Last evaluated: Dec 29, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001267277.1

Allele description [Variation Report for NM_130837.3(OPA1):c.2661+1G>A]

NM_130837.3(OPA1):c.2661+1G>A

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.2661+1G>A
HGVS:
  • NC_000003.12:g.193662963G>A
  • NG_011605.1:g.74820G>A
  • NM_001354663.2:c.2127+1G>A
  • NM_001354664.2:c.2124+1G>A
  • NM_015560.3:c.2496+1G>A
  • NM_130831.3:c.2388+1G>A
  • NM_130832.3:c.2442+1G>A
  • NM_130833.3:c.2499+1G>A
  • NM_130834.3:c.2550+1G>A
  • NM_130835.3:c.2553+1G>A
  • NM_130836.3:c.2607+1G>A
  • NM_130837.3:c.2661+1G>AMANE SELECT
  • LRG_337t1:c.2496+1G>A
  • LRG_337:g.74820G>A
  • NC_000003.11:g.193380752G>A
  • NM_015560.2:c.2496+1G>A
Molecular consequence:
  • NM_001354663.2:c.2127+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001354664.2:c.2124+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_015560.3:c.2496+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_130831.3:c.2388+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_130832.3:c.2442+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_130833.3:c.2499+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_130834.3:c.2550+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_130835.3:c.2553+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_130836.3:c.2607+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_130837.3:c.2661+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
Observations:
1

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001445458Ambry Geneticscriteria provided, single submitter
Pathogenic
(Dec 29, 2017)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Caucasian/Romaniangermlineyes1not providednot provided1not providedclinical testing

Citations

PubMed

Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations.

Ferré M, Bonneau D, Milea D, Chevrollier A, Verny C, Dollfus H, Ayuso C, Defoort S, Vignal C, Zanlonghi X, Charlin JF, Kaplan J, Odent S, Hamel CP, Procaccio V, Reynier P, Amati-Bonneau P.

Hum Mutat. 2009 Jul;30(7):E692-705. doi: 10.1002/humu.21025.

PubMed [citation]
PMID:
19319978

Details of each submission

From Ambry Genetics, SCV001445458.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Caucasian/Romanian1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Feb 6, 2021

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