U.S. flag

An official website of the United States government

NM_130837.3(OPA1):c.629C>T (p.Ala210Val) AND not specified

Germline classification:
Benign (6 submissions)
Last evaluated:
Apr 6, 2016
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000081770.31

Allele description [Variation Report for NM_130837.3(OPA1):c.629C>T (p.Ala210Val)]

NM_130837.3(OPA1):c.629C>T (p.Ala210Val)

Genes:
OPA1-AS1:OPA1 antisense RNA 1 [Gene - HGNC]
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.629C>T (p.Ala210Val)
Other names:
p.A192V:GCG>GTG
HGVS:
  • NC_000003.12:g.193618887C>T
  • NG_011605.1:g.30744C>T
  • NM_001354663.2:c.95C>T
  • NM_001354664.2:c.203C>T
  • NM_015560.3:c.575C>T
  • NM_130831.3:c.467C>T
  • NM_130832.3:c.521C>T
  • NM_130833.3:c.467C>T
  • NM_130834.3:c.629C>T
  • NM_130835.3:c.521C>T
  • NM_130836.3:c.575C>T
  • NM_130837.3:c.629C>TMANE SELECT
  • NP_001341592.1:p.Ala32Val
  • NP_001341593.1:p.Ala68Val
  • NP_056375.2:p.Ala192Val
  • NP_570844.1:p.Ala156Val
  • NP_570845.1:p.Ala174Val
  • NP_570846.1:p.Ala156Val
  • NP_570847.2:p.Ala210Val
  • NP_570848.1:p.Ala174Val
  • NP_570849.2:p.Ala192Val
  • NP_570850.2:p.Ala210Val
  • NP_570850.2:p.Ala210Val
  • LRG_337t1:c.575C>T
  • LRG_337t2:c.629C>T
  • LRG_337:g.30744C>T
  • LRG_337p1:p.Ala192Val
  • LRG_337p2:p.Ala210Val
  • NC_000003.11:g.193336676C>T
  • NM_015560.2:c.575C>T
  • NM_130837.2:c.629C>T
  • NR_046634.1:n.214G>A
  • O60313:p.Ala192Val
  • p.A192V
  • p.ALA192VAL
Protein change:
A156V
Links:
UniProtKB: O60313#VAR_022926; dbSNP: rs34307082
NCBI 1000 Genomes Browser:
rs34307082
Molecular consequence:
  • NM_001354663.2:c.95C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354664.2:c.203C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015560.3:c.575C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130831.3:c.467C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130832.3:c.521C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130833.3:c.467C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130834.3:c.629C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130835.3:c.521C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130836.3:c.575C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130837.3:c.629C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_046634.1:n.214G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
18

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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
SCV000113705Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)
Benign
(Apr 6, 2016)
germlineclinical testing

Citation Link,

SCV000170835GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))
Benign
(Nov 29, 2011)
germlineclinical testing

Citation Link,

SCV000315387PreventionGenetics, part of Exact Sciences
criteria provided, single submitter

(ACMG Guidelines, 2015)
Benigngermlineclinical testing

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

SCV001929773Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided
Benigngermlineclinical testing

SCV001958136Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided
Benigngermlineclinical testing

SCV001974314Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided
Benigngermlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown18not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Eurofins Ntd Llc (ga), SCV000113705.8

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided18not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided18not providednot providednot provided

From GeneDx, SCV000170835.11

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

From PreventionGenetics, part of Exact Sciences, SCV000315387.1

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

From Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus, SCV001929773.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus, SCV001958136.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV001974314.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 3, 2024