NM_000397.3(CYBB):c.1140dupG (p.Lys381Glufs) AND Chronic granulomatous disease, X-linked

Clinical significance:Likely pathogenic (Last evaluated: Aug 18, 2011)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000029623.1

Allele description

NM_000397.3(CYBB):c.1140dupG (p.Lys381Glufs)

Gene:
CYBB:cytochrome b-245 beta chain [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
Xp11.4
Genomic location:
Preferred name:
NM_000397.3(CYBB):c.1140dupG (p.Lys381Glufs)
HGVS:
  • NC_000023.11:g.37804119dupG
  • NG_009065.1:g.29103dupG
  • NM_000397.3:c.1140dupG
  • NP_000388.2:p.Lys381Glufs
  • LRG_53t1:c.1140dupG
  • LRG_53:g.29103dupG
  • LRG_53p1:p.Lys381Glufs
  • NC_000023.10:g.37663372dupG
  • p.Lys381GlufsX4
Links:
dbSNP: rs193922445
NCBI 1000 Genomes Browser:
rs193922445
Molecular consequence:
  • NM_000397.3:c.1140dupG - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Name:
Chronic granulomatous disease, X-linked (CDGX)
Synonyms:
CYTOCHROME b-NEGATIVE GRANULOMATOUS DISEASE, CHRONIC, X-LINKED; GRANULOMATOUS DISEASE, CHRONIC, X-LINKED, SOMATIC MOSAIC
Identifiers:
MedGen: C1844376; Orphanet: 379; OMIM: 306400

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000052275Integrated Genetics/Laboratory Corporation of Americacriteria provided, single submitter
likely pathogenic
(Aug 18, 2011)
germlinecuration, clinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing
not providedgermlineyes1not providednot providednot providednot providedliterature only

Details of each submission

From Integrated Genetics/Laboratory Corporation of America, SCV000052275.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided
2not providednot providednot providednot providedclinical testingnot provided

Description

Converted during submission to Likely pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providedBloodassert pathogenicitynot providednot providednot providednot provided
2germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 2

Co-occurrences

#ZygosityAllelesNumber of Observations
2Homozygote1

Last Updated: May 26, 2018