U.S. flag

An official website of the United States government

  • delete

NM_015560.2(OPA1):c.211C>T (p.Arg71Cys) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Nov 24, 2014
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000198796.1

Allele description

NM_015560.2(OPA1):c.211C>T (p.Arg71Cys)

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.211C>T (p.Arg71Cys)
HGVS:
  • NC_000003.12:g.193614901C>T
  • NG_011605.1:g.26758C>T
  • NM_015560.2:c.211C>T
  • NM_130837.2:c.211C>T
  • NP_056375.2:p.Arg71Cys
  • NP_570850.2:p.Arg71Cys
  • LRG_337t1:c.211C>T
  • LRG_337t2:c.211C>T
  • LRG_337:g.26758C>T
  • LRG_337p1:p.Arg71Cys
  • LRG_337p2:p.Arg71Cys
  • NC_000003.11:g.193332690C>T
  • p.R71C
Protein change:
R71C
Links:
dbSNP: rs368488165
NCBI 1000 Genomes Browser:
rs368488165
Allele Frequency:
0.00005(T)
Molecular consequence:
  • NM_015560.2:c.211C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN221809

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000252014GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely pathogenic
(Nov 24, 2014) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000252014.3

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

Description

p.Arg71Cys (CGT>TGT): c.211 C>T in exon 2 in the OPA1 gene (NM_015560.2) The R71C variant in the OPA1 gene has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The R71C variant was not observed at any significant frequency 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 R71C variant is a non-conservative amino acid substitution, which occurs at a position that is moderately conserved across mammalian species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Missense mutations in a nearby residue (Y80C) have been reported in association with optic atrophy, supporting the functional importance of this region of the protein. However, the possibility it may be a rare benign variant cannot be excluded. This variant has been observed to be paternally inherited. The variant is found in OPA1 panel(s).

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

Last Updated: Feb 26, 2017