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NM_000397.4(CYBB):c.599C>T (p.Ser200Phe) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jul 21, 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:
RCV000518911.1

Allele description [Variation Report for NM_000397.4(CYBB):c.599C>T (p.Ser200Phe)]

NM_000397.4(CYBB):c.599C>T (p.Ser200Phe)

Gene:
CYBB:cytochrome b-245 beta chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp21.1
Genomic location:
Preferred name:
NM_000397.4(CYBB):c.599C>T (p.Ser200Phe)
HGVS:
  • NC_000023.11:g.37796066C>T
  • NG_009065.1:g.21046C>T
  • NM_000397.4:c.599C>TMANE SELECT
  • NP_000388.2:p.Ser200Phe
  • NP_000388.2:p.Ser200Phe
  • LRG_53t1:c.599C>T
  • LRG_53:g.21046C>T
  • LRG_53p1:p.Ser200Phe
  • NC_000023.10:g.37655319C>T
  • NM_000397.3:c.599C>T
Protein change:
S200F
Links:
dbSNP: rs1556468360
NCBI 1000 Genomes Browser:
rs1556468360
Molecular consequence:
  • NM_000397.4:c.599C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

Recent activity

Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000619508GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely pathogenic
(Jul 21, 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, SCV000619508.2

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

Description

The S200F variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). S200F 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, and in silico analysis predicts this variant is probably damaging to the protein structure/function. The S200 residue occurs within the D loop of CYBB, and variants in this region have been shown to eliminate oxidase activity of NADPH oxidase (Li et al., 2005). In summary, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.

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

Last Updated: Apr 23, 2022