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NM_005138.3(SCO2):c.209G>C (p.Gly70Ala) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 19, 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:
RCV002040833.4

Allele description

NM_005138.3(SCO2):c.209G>C (p.Gly70Ala)

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.209G>C (p.Gly70Ala)
HGVS:
  • NC_000022.11:g.50524203C>G
  • NG_011860.1:g.10883G>C
  • NG_016235.1:g.7237G>C
  • NG_021419.1:g.20988C>G
  • NM_001169109.2:c.209G>C
  • NM_001169110.1:c.209G>C
  • NM_001169111.2:c.209G>C
  • NM_001185011.2:c.*828C>G
  • NM_005138.3:c.209G>CMANE SELECT
  • NM_152299.4:c.*828C>GMANE SELECT
  • NP_001162580.1:p.Gly70Ala
  • NP_001162581.1:p.Gly70Ala
  • NP_001162582.1:p.Gly70Ala
  • NP_005129.2:p.Gly70Ala
  • LRG_727:g.10883G>C
  • NC_000022.10:g.50962632C>G
  • NM_005138.2:c.209G>C
Protein change:
G70A
Links:
dbSNP: rs1282424848
NCBI 1000 Genomes Browser:
rs1282424848
Molecular consequence:
  • NM_001185011.2:c.*828C>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_152299.4:c.*828C>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001169109.2:c.209G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001169110.1:c.209G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001169111.2:c.209G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005138.3:c.209G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002299550Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(May 19, 2022) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV002299550.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 70 of the SCO2 protein (p.Gly70Ala). This variant is present in population databases (no rsID available, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with SCO2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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

Last Updated: Sep 1, 2024