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NM_130837.3(OPA1):c.1870+1G>T AND Abortive cerebellar ataxia

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 2, 2018
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000210744.4

Allele description [Variation Report for NM_130837.3(OPA1):c.1870+1G>T]

NM_130837.3(OPA1):c.1870+1G>T

Genes:
LOC126806913:BRD4-independent group 4 enhancer GRCh37_chr3:193364377-193365576 [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.1870+1G>T
HGVS:
  • NC_000003.12:g.193647181G>T
  • NG_011605.1:g.59038G>T
  • NG_083234.1:g.694G>T
  • NM_001354663.2:c.1336+1G>T
  • NM_001354664.2:c.1333+1G>T
  • NM_015560.3:c.1705+1G>T
  • NM_130831.3:c.1597+1G>T
  • NM_130832.3:c.1651+1G>T
  • NM_130833.3:c.1708+1G>T
  • NM_130834.3:c.1759+1G>T
  • NM_130835.3:c.1762+1G>T
  • NM_130836.3:c.1816+1G>T
  • NM_130837.3:c.1870+1G>TMANE SELECT
  • LRG_337t1:c.1705+1G>T
  • LRG_337:g.59038G>T
  • NC_000003.11:g.193364970G>T
  • NM_015560.2:c.1705+1G>T
Nucleotide change:
IVS17DS, G-T, +1
Links:
OMIM: 605290.0022; dbSNP: rs879255595
NCBI 1000 Genomes Browser:
rs879255595
Molecular consequence:
  • NM_001354663.2:c.1336+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001354664.2:c.1333+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_015560.3:c.1705+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_130831.3:c.1597+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_130832.3:c.1651+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_130833.3:c.1708+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_130834.3:c.1759+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_130835.3:c.1762+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_130836.3:c.1816+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_130837.3:c.1870+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Abortive cerebellar ataxia (BEHRS)
Synonyms:
OPTIC ATROPHY, INFANTILE HEREDITARY, WITH NEUROLOGIC ABNORMALITIES; Behr syndrome; Optic atrophy, infantile hereditary, Behr complicated form of; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008858; MedGen: C0221061; Orphanet: 1239; OMIM: 210000

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000266839OMIM
no assertion criteria provided
Pathogenic
(Jan 2, 2018) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

'Behr syndrome' with OPA1 compound heterozygote mutations.

Carelli V, Sabatelli M, Carrozzo R, Rizza T, Schimpf S, Wissinger B, Zanna C, Rugolo M, La Morgia C, Caporali L, Carbonelli M, Barboni P, Tonon C, Lodi R, Bertini E.

Brain. 2015 Jan;138(Pt 1):e321. doi: 10.1093/brain/awu234. Epub 2014 Aug 21. No abstract available.

PubMed [citation]
PMID:
25146916
PMCID:
PMC4441076

Details of each submission

From OMIM, SCV000266839.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a 20-year-old Italian man with Behr syndrome (BERHS; 210000), Carelli et al. (2015) identified compound heterozygous mutations in the OPA1 gene: a G-to-T transversion in intron 17 (c.1705+1G-T), resulting in a splice site mutation, premature termination and functional haploinsufficiency, and I382M (605190.0018). The patient's mother and several maternal relatives with isolated optic atrophy were heterozygous for the splice site mutation, but there was also evidence of incomplete penetrance for this mutation. The father, who was heterozygous for the I382M mutation, was clinically unaffected, suggesting that it may be a hypomorphic mutation.

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

Last Updated: Aug 18, 2024