NM_130837.2(OPA1):c.1744A>C (p.Lys582Gln) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Feb 8, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000756449.1

Allele description [Variation Report for NM_130837.2(OPA1):c.1744A>C (p.Lys582Gln)]

NM_130837.2(OPA1):c.1744A>C (p.Lys582Gln)

Gene:
OPA1:OPA1 mitochondrial dynamin like GTPase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q29
Genomic location:
Preferred name:
NM_130837.2(OPA1):c.1744A>C (p.Lys582Gln)
HGVS:
  • NC_000003.12:g.193645790A>C
  • NG_011605.1:g.57647A>C
  • NM_001354663.2:c.1210A>C
  • NM_001354664.2:c.1207A>C
  • NM_015560.2:c.1579A>C
  • NM_130831.3:c.1471A>C
  • NM_130832.3:c.1525A>C
  • NM_130833.2:c.1582A>C
  • NM_130834.3:c.1633A>C
  • NM_130835.2:c.1636A>C
  • NM_130836.3:c.1690A>C
  • NM_130837.2:c.1744A>C
  • NP_001341592.1:p.Lys404Gln
  • NP_001341593.1:p.Lys403Gln
  • NP_056375.2:p.Lys527Gln
  • NP_570844.1:p.Lys491Gln
  • NP_570845.1:p.Lys509Gln
  • NP_570846.1:p.Lys528Gln
  • NP_570847.2:p.Lys545Gln
  • NP_570848.1:p.Lys546Gln
  • NP_570849.2:p.Lys564Gln
  • NP_570850.2:p.Lys582Gln
  • LRG_337t1:c.1579A>C
  • LRG_337t2:c.1744A>C
  • LRG_337:g.57647A>C
  • LRG_337p1:p.Lys527Gln
  • LRG_337p2:p.Lys582Gln
  • NC_000003.11:g.193363579A>C
Protein change:
K403Q
Links:
dbSNP: rs766935532
NCBI 1000 Genomes Browser:
rs766935532
Molecular consequence:
  • NM_001354663.2:c.1210A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354664.2:c.1207A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015560.2:c.1579A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130831.3:c.1471A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130832.3:c.1525A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130833.2:c.1582A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130834.3:c.1633A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130835.2:c.1636A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130836.3:c.1690A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130837.2:c.1744A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000884268ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratoriescriteria provided, single submitter
Uncertain significance
(Feb 8, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories, SCV000884268.1

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

Description

The OPA1: c.1744A>C; p.Lys582Gln variant (rs766935532) has not been reported in the medical literature, is not listed in gene-specific variant databases, nor has it been previously identified in our laboratory. It is It is also absent from population databases such as 1000 Genomes, the NHLBI GO Exome Sequencing Project (ESP), and the Genome Aggregation Database (gnomAD) browser. The lysine at codon 582 is weakly conserved considering 12 species (Alamut software v2.10), and computational analyses suggest this variant does not have a significant effect on OPA1 protein structure/function (SIFT: tolerated and PolyPhen2: benign). However, based on the available information, the clinical significance of the p.Lys582Gln variant cannot be determined with certainty.

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

Last Updated: Feb 6, 2021

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