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NM_005138.3(SCO2):c.776C>T (p.Ala259Val) AND Fatal Infantile Cardioencephalomyopathy

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jun 14, 2016
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:
RCV000383650.13

Allele description [Variation Report for NM_005138.3(SCO2):c.776C>T (p.Ala259Val)]

NM_005138.3(SCO2):c.776C>T (p.Ala259Val)

Genes:
TYMP:thymidine phosphorylase [Gene - OMIM - HGNC]
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.776C>T (p.Ala259Val)
Other names:
p.A259V:GCG>GTG
HGVS:
  • NC_000022.11:g.50523636G>A
  • NG_016235.1:g.7804C>T
  • NG_021419.1:g.20421G>A
  • NM_001169109.2:c.776C>T
  • NM_001169110.1:c.776C>T
  • NM_001169111.2:c.776C>T
  • NM_001185011.2:c.*261G>A
  • NM_005138.3:c.776C>TMANE SELECT
  • NM_152299.4:c.*261G>AMANE SELECT
  • NP_001162580.1:p.Ala259Val
  • NP_001162581.1:p.Ala259Val
  • NP_001162582.1:p.Ala259Val
  • NP_005129.2:p.Ala259Val
  • NP_005129.2:p.Ala259Val
  • NC_000022.10:g.50962065G>A
  • NM_005138.2:c.776C>T
  • O43819:p.Ala259Val
  • p.A259V
Protein change:
A259V
Links:
UniProtKB: O43819#VAR_051912; dbSNP: rs8139305
NCBI 1000 Genomes Browser:
rs8139305
Molecular consequence:
  • NM_001185011.2:c.*261G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_152299.4:c.*261G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001169109.2:c.776C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001169110.1:c.776C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001169111.2:c.776C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005138.3:c.776C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Fatal Infantile Cardioencephalomyopathy
Identifiers:
MedGen: CN239235

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000439258Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification 20161018)		Likely benign
(Jun 14, 2016) 		germlineclinical testing

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

ICSL_Variant_Classification_20161018.pdf

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Mutations in SCO2 are associated with autosomal-dominant high-grade myopia.

Tran-Viet KN, Powell C, Barathi VA, Klemm T, Maurer-Stroh S, Limviphuvadh V, Soler V, Ho C, Yanovitch T, Schneider G, Li YJ, Nading E, Metlapally R, Saw SM, Goh L, Rozen S, Young TL.

Am J Hum Genet. 2013 May 2;92(5):820-6. doi: 10.1016/j.ajhg.2013.04.005.

PubMed [citation]
PMID:
23643385
PMCID:
PMC3644634

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000439258.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 3, 2024