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NM_130837.3(OPA1):c.1369G>A (p.Val457Met) AND Abortive cerebellar ataxia

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 18, 2016
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:
RCV000210739.3

Allele description [Variation Report for NM_130837.3(OPA1):c.1369G>A (p.Val457Met)]

NM_130837.3(OPA1):c.1369G>A (p.Val457Met)

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.1369G>A (p.Val457Met)
HGVS:
  • NC_000003.12:g.193643436G>A
  • NG_011605.1:g.55293G>A
  • NM_001354663.2:c.835G>A
  • NM_001354664.2:c.832G>A
  • NM_015560.3:c.1204G>A
  • NM_130831.3:c.1096G>A
  • NM_130832.3:c.1150G>A
  • NM_130833.3:c.1207G>A
  • NM_130834.3:c.1258G>A
  • NM_130835.3:c.1261G>A
  • NM_130836.3:c.1315G>A
  • NM_130837.3:c.1369G>AMANE SELECT
  • NP_001341592.1:p.Val279Met
  • NP_001341593.1:p.Val278Met
  • NP_056375.2:p.Val402Met
  • NP_056375.2:p.Val402Met
  • NP_570844.1:p.Val366Met
  • NP_570845.1:p.Val384Met
  • NP_570846.1:p.Val403Met
  • NP_570847.2:p.Val420Met
  • NP_570848.1:p.Val421Met
  • NP_570849.2:p.Val439Met
  • NP_570850.2:p.Val457Met
  • LRG_337t1:c.1204G>A
  • LRG_337:g.55293G>A
  • LRG_337p1:p.Val402Met
  • NC_000003.11:g.193361225G>A
  • NM_015560.2:c.1204G>A
Protein change:
V278M; VAL402MET
Links:
OMIM: 605290.0021; dbSNP: rs879255594
NCBI 1000 Genomes Browser:
rs879255594
Molecular consequence:
  • NM_001354663.2:c.835G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354664.2:c.832G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015560.3:c.1204G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130831.3:c.1096G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130832.3:c.1150G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130833.3:c.1207G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130834.3:c.1258G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130835.3:c.1261G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130836.3:c.1315G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130837.3:c.1369G>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000266838OMIM
no assertion criteria provided
Pathogenic
(Aug 18, 2016) 		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

Early-onset Behr syndrome due to compound heterozygous mutations in OPA1.

Bonneau D, Colin E, Oca F, Ferré M, Chevrollier A, Guéguen N, Desquiret-Dumas V, N'Guyen S, Barth M, Zanlonghi X, Rio M, Desguerre I, Barnerias C, Momtchilova M, Rodriguez D, Slama A, Lenaers G, Procaccio V, Amati-Bonneau P, Reynier P.

Brain. 2014 Oct;137(Pt 10):e301. doi: 10.1093/brain/awu184. Epub 2014 Jul 10. No abstract available.

PubMed [citation]
PMID:
25012220

Details of each submission

From OMIM, SCV000266838.2

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

Description

For discussion of the c.1204G-A transition in exon 12 of the OPA1 gene resulting in a val402-to-met (V402M) substitution that was found in compound heterozygous state in a patient with Behr syndrome (BEHRS; 210000) by Bonneau et al. (2014), see 605290.0003.

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

Last Updated: Sep 29, 2024