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NM_002491.3(NDUFB3):c.163G>A (p.Gly55Ser) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 13, 2017
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:
RCV000494046.1

Allele description [Variation Report for NM_002491.3(NDUFB3):c.163G>A (p.Gly55Ser)]

NM_002491.3(NDUFB3):c.163G>A (p.Gly55Ser)

Gene:
NDUFB3:NADH:ubiquinone oxidoreductase subunit B3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q33.1
Genomic location:
Preferred name:
NM_002491.3(NDUFB3):c.163G>A (p.Gly55Ser)
HGVS:
  • NC_000002.12:g.201085481G>A
  • NG_032156.1:g.18743G>A
  • NM_001257102.2:c.163G>A
  • NM_002491.3:c.163G>AMANE SELECT
  • NP_001244031.1:p.Gly55Ser
  • NP_002482.1:p.Gly55Ser
  • NC_000002.11:g.201950204G>A
  • NM_002491.2:c.163G>A
Protein change:
G55S
Links:
dbSNP: rs368909621
NCBI 1000 Genomes Browser:
rs368909621
Molecular consequence:
  • NM_001257102.2:c.163G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002491.3:c.163G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000582327GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(May 13, 2017) 		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, SCV000582327.4

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

Description

The G55S variant in the NDUFB3 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The G55S variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The G55S variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. However, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret G55S as a variant of uncertain significance.

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

Last Updated: May 1, 2024