U.S. flag

An official website of the United States government

NM_025136.4(OPA3):c.410A>C (p.Gln137Pro) AND 3-Methylglutaconic aciduria type 3

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 12, 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:
RCV001835128.1

Allele description [Variation Report for NM_025136.4(OPA3):c.410A>C (p.Gln137Pro)]

NM_025136.4(OPA3):c.410A>C (p.Gln137Pro)

Gene:
OPA3:outer mitochondrial membrane lipid metabolism regulator OPA3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.32
Genomic location:
Preferred name:
NM_025136.4(OPA3):c.410A>C (p.Gln137Pro)
Other names:
p.Gln137Pro
HGVS:
  • NC_000019.10:g.45553644T>G
  • NG_013332.1:g.36221A>C
  • NM_001017989.3:c.143-24188A>C
  • NM_025136.4:c.410A>CMANE SELECT
  • NP_079412.1:p.Gln137Pro
  • NC_000019.9:g.46056902T>G
  • NC_000019.9:g.46056902T>G
  • NM_025136.3:c.410A>C
Protein change:
Q137P
Links:
dbSNP: rs372161100
NCBI 1000 Genomes Browser:
rs372161100
Molecular consequence:
  • NM_001017989.3:c.143-24188A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_025136.4:c.410A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
3-Methylglutaconic aciduria type 3 (MGCA3)
Synonyms:
OPA3, AUTOSOMAL RECESSIVE; OPTIC ATROPHY 3, AUTOSOMAL RECESSIVE; 3-methylglutaconic aciduria type III; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009787; MedGen: C0574084; Orphanet: 67047; OMIM: 258501

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
SCV002088918Natera, Inc.
no assertion criteria provided
Uncertain significance
(Jun 12, 2020) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV002088918.1

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

Last Updated: Nov 30, 2024