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NM_003848.4(SUCLG2):c.1082A>G (p.Asn361Ser) AND Mitochondrial DNA depletion syndrome 9

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV000845065.1

Allele description [Variation Report for NM_003848.4(SUCLG2):c.1082A>G (p.Asn361Ser)]

NM_003848.4(SUCLG2):c.1082A>G (p.Asn361Ser)

Gene:
SUCLG2:succinate-CoA ligase GDP-forming subunit beta [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p14.1
Genomic location:
Preferred name:
NM_003848.4(SUCLG2):c.1082A>G (p.Asn361Ser)
HGVS:
  • NC_000003.12:g.67400832T>C
  • NG_052945.1:g.258783A>G
  • NM_001177599.1:c.1082A>G
  • NM_001177599.2:c.1082A>G
  • NM_003848.4:c.1082A>GMANE SELECT
  • NP_001171070.1:p.Asn361Ser
  • NP_003839.2:p.Asn361Ser
  • NP_003839.2:p.Asn361Ser
  • NC_000003.11:g.67451256T>C
  • NM_003848.3:c.1082A>G
Protein change:
N361S
Links:
dbSNP: rs746196486
NCBI 1000 Genomes Browser:
rs746196486
Molecular consequence:
  • NM_001177599.2:c.1082A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003848.4:c.1082A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Mitochondrial DNA depletion syndrome 9 (MTDPS9)
Synonyms:
Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)
Identifiers:
MONDO: MONDO:0009504; MedGen: C3151476; Orphanet: 17; OMIM: 245400

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000986906GenomeConnect, ClinGen
no classification provided
not providedunknownphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From GenomeConnect, ClinGen, SCV000986906.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

Variant interpreted as Uncertain significance on 10-30-2014 by Lab or GTR ID 320284. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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

Last Updated: Apr 15, 2023