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NM_000101.4(CYBA):c.171del (p.Lys58fs) AND Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 22, 2021
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:
RCV001580564.3

Allele description [Variation Report for NM_000101.4(CYBA):c.171del (p.Lys58fs)]

NM_000101.4(CYBA):c.171del (p.Lys58fs)

Gene:
CYBA:cytochrome b-245 alpha chain [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
16q24.2
Genomic location:
Preferred name:
NM_000101.4(CYBA):c.171del (p.Lys58fs)
HGVS:
  • NC_000016.10:g.88647137del
  • NG_007291.1:g.8917del
  • NM_000101.4:c.171delMANE SELECT
  • NP_000092.2:p.Lys58fs
  • LRG_52:g.8917del
  • NC_000016.9:g.88713545del
Protein change:
K58fs
Links:
dbSNP: rs763678131
NCBI 1000 Genomes Browser:
rs763678131
Molecular consequence:
  • NM_000101.4:c.171del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
Synonyms:
CGD DUE TO DEFICIENCY OF THE ALPHA SUBUNIT OF CYTOCHROME b; CGD, AUTOSOMAL RECESSIVE CYTOCHROME b-NEGATIVE; CYBA DEFICIENCY; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009308; MedGen: C1856255; Orphanet: 379; OMIM: 233690

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001810392Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jul 22, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Genome-Nilou Lab, SCV001810392.1

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

Last Updated: Oct 20, 2024