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NM_005138.3(SCO2):c.26C>G (p.Thr9Arg) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 15, 2023
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:
RCV004455004.1

Allele description [Variation Report for NM_005138.3(SCO2):c.26C>G (p.Thr9Arg)]

NM_005138.3(SCO2):c.26C>G (p.Thr9Arg)

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.26C>G (p.Thr9Arg)
HGVS:
  • NC_000022.11:g.50524386G>C
  • NG_011860.1:g.10700C>G
  • NG_016235.1:g.7054C>G
  • NG_021419.1:g.21171G>C
  • NM_001169109.2:c.26C>G
  • NM_001169110.1:c.26C>G
  • NM_001169111.2:c.26C>G
  • NM_001185011.2:c.*1011G>C
  • NM_005138.3:c.26C>GMANE SELECT
  • NM_152299.4:c.*1011G>CMANE SELECT
  • NP_001162580.1:p.Thr9Arg
  • NP_001162581.1:p.Thr9Arg
  • NP_001162582.1:p.Thr9Arg
  • NP_005129.2:p.Thr9Arg
  • LRG_727:g.10700C>G
  • NC_000022.10:g.50962815G>C
  • NM_005138.2:c.26C>G
Protein change:
T9R
Molecular consequence:
  • NM_001185011.2:c.*1011G>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_152299.4:c.*1011G>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001169109.2:c.26C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001169110.1:c.26C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001169111.2:c.26C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005138.3:c.26C>G - 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
SCV004946136Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 15, 2023) 		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, SCV004946136.1

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

Description

The c.26C>G (p.T9R) alteration is located in exon 2 (coding exon 1) of the SCO2 gene. This alteration results from a C to G substitution at nucleotide position 26, causing the threonine (T) at amino acid position 9 to be replaced by an arginine (R). 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: Sep 1, 2024