NM_130837.2(OPA1):c.2099A>G (p.Asn700Ser) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Aug 14, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000756448.2

Allele description [Variation Report for NM_130837.2(OPA1):c.2099A>G (p.Asn700Ser)]

NM_130837.2(OPA1):c.2099A>G (p.Asn700Ser)

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.2099A>G (p.Asn700Ser)
HGVS:
  • NC_000003.12:g.193654948A>G
  • NG_011605.1:g.66805A>G
  • NM_001354663.2:c.1565A>G
  • NM_001354664.2:c.1562A>G
  • NM_015560.2:c.1934A>G
  • NM_130831.3:c.1826A>G
  • NM_130832.3:c.1880A>G
  • NM_130833.2:c.1937A>G
  • NM_130834.3:c.1988A>G
  • NM_130835.2:c.1991A>G
  • NM_130836.3:c.2045A>G
  • NM_130837.2:c.2099A>G
  • NP_001341592.1:p.Asn522Ser
  • NP_001341593.1:p.Asn521Ser
  • NP_056375.2:p.Asn645Ser
  • NP_570844.1:p.Asn609Ser
  • NP_570845.1:p.Asn627Ser
  • NP_570846.1:p.Asn646Ser
  • NP_570847.2:p.Asn663Ser
  • NP_570848.1:p.Asn664Ser
  • NP_570849.2:p.Asn682Ser
  • NP_570850.2:p.Asn700Ser
  • LRG_337t1:c.1934A>G
  • LRG_337t2:c.2099A>G
  • LRG_337:g.66805A>G
  • LRG_337p1:p.Asn645Ser
  • LRG_337p2:p.Asn700Ser
  • NC_000003.11:g.193372737A>G
Protein change:
N521S
Links:
dbSNP: rs142694017
NCBI 1000 Genomes Browser:
rs142694017
Molecular consequence:
  • NM_001354663.2:c.1565A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354664.2:c.1562A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015560.2:c.1934A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130831.3:c.1826A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130832.3:c.1880A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130833.2:c.1937A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130834.3:c.1988A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130835.2:c.1991A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130836.3:c.2045A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130837.2:c.2099A>G - 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
SCV000884267ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratoriescriteria provided, single submitter
Uncertain significance
(Aug 14, 2017)
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, SCV000884267.1

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

Description

The p.Asn700Ser variant (rs142694017) 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 listed in the Genome Aggregation Database (gnomAD) browser with a frequency in African populations of 0.037% (identified in 9 out of 24,028 chromosomes). The asparagine at codon 700 is moderately conserved considering 12 species (Alamut software v2.9), and computational analyses return mixed results regarding the effect of this variant on OPA1 protein structure/function (SIFT: tolerated, PolyPhen2: benign, and Mutation Taster: disease causing). Thus, based on the available information, the clinical significance of the p.Asn700Ser variant cannot be determined with certainty.

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

Last Updated: Sep 29, 2021

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