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NM_005138.3(SCO2):c.173G>A (p.Arg58Gln) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 13, 2022
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:
RCV002559406.2

Allele description [Variation Report for NM_005138.3(SCO2):c.173G>A (p.Arg58Gln)]

NM_005138.3(SCO2):c.173G>A (p.Arg58Gln)

Genes:
NCAPH2:non-SMC condensin II complex subunit H2 [Gene - OMIM - HGNC]
SCO2:synthesis of cytochrome C oxidase 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
22q13.33
Genomic location:
Preferred name:
NM_005138.3(SCO2):c.173G>A (p.Arg58Gln)
HGVS:
  • NC_000022.11:g.50524239C>T
  • NG_011860.1:g.10847G>A
  • NG_016235.1:g.7201G>A
  • NG_021419.1:g.21024C>T
  • NM_001169109.2:c.173G>A
  • NM_001169110.1:c.173G>A
  • NM_001169111.2:c.173G>A
  • NM_001185011.2:c.*864C>T
  • NM_005138.3:c.173G>AMANE SELECT
  • NM_152299.4:c.*864C>TMANE SELECT
  • NP_001162580.1:p.Arg58Gln
  • NP_001162581.1:p.Arg58Gln
  • NP_001162582.1:p.Arg58Gln
  • NP_005129.2:p.Arg58Gln
  • LRG_727:g.10847G>A
  • NC_000022.10:g.50962668C>T
  • NC_000022.10:g.50962668C>T
  • NM_005138.2:c.173G>A
Protein change:
R58Q
Links:
dbSNP: rs375383752
NCBI 1000 Genomes Browser:
rs375383752
Molecular consequence:
  • NM_001185011.2:c.*864C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_152299.4:c.*864C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001169109.2:c.173G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001169110.1:c.173G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001169111.2:c.173G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005138.3:c.173G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003552178Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 13, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV003552178.2

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

Description

The c.173G>A (p.R58Q) alteration is located in exon 2 (coding exon 1) of the SCO2 gene. This alteration results from a G to A substitution at nucleotide position 173, causing the arginine (R) at amino acid position 58 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: May 19, 2024