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NM_024407.5(NDUFS7):c.343C>T (p.Arg115Cys) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Sep 25, 2014
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000195624.2

Allele description [Variation Report for NM_024407.5(NDUFS7):c.343C>T (p.Arg115Cys)]

NM_024407.5(NDUFS7):c.343C>T (p.Arg115Cys)

Gene:
NDUFS7:NADH:ubiquinone oxidoreductase core subunit S7 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.3
Genomic location:
Preferred name:
NM_024407.5(NDUFS7):c.343C>T (p.Arg115Cys)
HGVS:
  • NC_000019.10:g.1390985C>T
  • NG_008283.1:g.12102C>T
  • NM_001363602.2:c.343C>T
  • NM_024407.5:c.343C>TMANE SELECT
  • NP_001350531.1:p.Arg115Cys
  • NP_077718.3:p.Arg115Cys
  • NC_000019.9:g.1390984C>T
  • NM_024407.4:c.343C>T
  • p.R115C
Protein change:
R115C
Links:
dbSNP: rs11551664
NCBI 1000 Genomes Browser:
rs11551664
Molecular consequence:
  • NM_001363602.2:c.343C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_024407.5:c.343C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000251919GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely pathogenic
(Sep 25, 2014) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000251919.11

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

Description

p.Arg115Cys (CGC>TGC): c.343 C>T in exon 5 of the NDUFS7 gene (NM_024407.4). The R115C variant that is likely pathogenic, identified in the NDUFS7 gene, has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The R115C variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in charge, size and/or other properties. This substitution occurs at a position that is highly conserved across species and in silico analysis predicts this variant is probably damaging to the protein structure/function. A missense mutation in a nearby residue (V122M) has been reported in association with Leigh syndrome supporting the functional importance of this region of the protein. Therefore, this variant is a strong candidate for a pathogenic mutation, however the possibility that it is a benign variant cannot be excluded. The variant is found in MITONUC-MITOP panel(s).

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

Last Updated: Sep 17, 2022