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NM_000397.4(CYBB):c.549G>A (p.Thr183=) AND Chronic granulomatous disease

Germline classification:
Likely benign (1 submission)
Last evaluated:
Apr 27, 2021
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001832719.1

Allele description [Variation Report for NM_000397.4(CYBB):c.549G>A (p.Thr183=)]

NM_000397.4(CYBB):c.549G>A (p.Thr183=)

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.549G>A (p.Thr183=)
HGVS:
  • NC_000023.11:g.37796016G>A
  • NG_009065.1:g.20996G>A
  • NM_000397.4:c.549G>AMANE SELECT
  • NP_000388.2:p.Thr183=
  • LRG_53:g.20996G>A
  • NC_000023.10:g.37655269G>A
Links:
dbSNP: rs1556468340
NCBI 1000 Genomes Browser:
rs1556468340
Molecular consequence:
  • NM_000397.4:c.549G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Chronic granulomatous disease
Identifiers:
MONDO: MONDO:0018305; MedGen: C0018203; OMIM: PS306400

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002087133Natera, Inc.
no assertion criteria provided
Likely benign
(Apr 27, 2021) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV002087133.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024