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NM_001098.3(ACO2):c.[1894G>A];[487G>T] AND Optic atrophy 9

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 17, 2020
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:
RCV001030820.2

Allele description

NM_001098.3(ACO2):c.487G>T (p.Val163Leu)

Gene:
ACO2:aconitase 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
22q13.2
Genomic location:
Preferred name:
NM_001098.3(ACO2):c.487G>T (p.Val163Leu)
Other names:
p.V163L:GTG>TTG
HGVS:
  • NC_000022.11:g.41511930G>T
  • NG_032143.1:g.47806G>T
  • NM_001098.3:c.487G>TMANE SELECT
  • NP_001089.1:p.Val163Leu
  • NC_000022.10:g.41907934G>T
  • NM_001098.2:c.487G>T
Protein change:
V163L; VAL163LEU
Links:
OMIM: 100850.0019; dbSNP: rs759920667
NCBI 1000 Genomes Browser:
rs759920667
Molecular consequence:
  • NM_001098.3:c.487G>T - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
Decreased function

NM_001098.3(ACO2):c.1894G>A (p.Val632Met)

Genes:
POLR3H:RNA polymerase III subunit H [Gene - OMIM - HGNC]
ACO2:aconitase 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
22q13.2
Genomic location:
Preferred name:
NM_001098.3(ACO2):c.1894G>A (p.Val632Met)
HGVS:
  • NC_000022.11:g.41526394G>A
  • NG_032143.1:g.62270G>A
  • NG_161901.1:g.208G>A
  • NM_001018050.4:c.*2889C>TMANE SELECT
  • NM_001018052.4:c.*2889C>T
  • NM_001098.3:c.1894G>AMANE SELECT
  • NM_001282884.2:c.*2889C>T
  • NM_001282885.2:c.*2889C>T
  • NM_138338.5:c.*2889C>T
  • NP_001089.1:p.Val632Met
  • NC_000022.10:g.41922398G>A
  • NC_000022.10:g.41922398G>A
Protein change:
V632M; VAL632MET
Links:
OMIM: 100850.0018; dbSNP: rs1601933371
NCBI 1000 Genomes Browser:
rs1601933371
Molecular consequence:
  • NM_001018050.4:c.*2889C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001018052.4:c.*2889C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001282884.2:c.*2889C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001282885.2:c.*2889C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_138338.5:c.*2889C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001098.3:c.1894G>A - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
Decreased function

Condition(s)

Name:
Optic atrophy 9 (OPA9)
Identifiers:
MONDO: MONDO:0014571; MedGen: C4225384; OMIM: 616289

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001190085Daryl Scott Lab, Baylor College of Medicine
no assertion criteria provided
Pathogenic
(Mar 17, 2020) 		inheritedclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Hispanicinheritedyes21not providednot providednot providedclinical testing

Details of each submission

From Daryl Scott Lab, Baylor College of Medicine, SCV001190085.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Hispanic2not providednot providedclinical testingnot provided

Description

The male sibling is 16 years old and the female sibling is 14 years old.

Description

We describe a brother and sister with OPA9 who are compound heterozygous for novel missense variants in ACO2; c.[487G>T];[1894G>A], p.[(Val163Leu)];[(Val632Met)].

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided2not provided1not provided

Last Updated: Nov 24, 2024