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NM_000265.7(NCF1):c.75_76del (p.Tyr26fs) AND Granulomatous disease, chronic, X-linked

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 1, 2022
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:
RCV002283438.2

Allele description [Variation Report for NM_000265.7(NCF1):c.75_76del (p.Tyr26fs)]

NM_000265.7(NCF1):c.75_76del (p.Tyr26fs)

Genes:
LOC106029312:Williams-Beuren syndrome medial block B recombination region [Gene]
NCF1:neutrophil cytosolic factor 1 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
7q11.23
Genomic location:
Preferred name:
NM_000265.7(NCF1):c.75_76del (p.Tyr26fs)
HGVS:
  • NC_000007.14:g.74777267GT[1]
  • NG_009078.2:g.8304GT[1]
  • NG_042249.1:g.43431GT[1]
  • NM_000265.7:c.75_76delMANE SELECT
  • NP_000256.4:p.Tyr26fs
  • LRG_87t1:c.75_76del
  • LRG_87:g.8304GT[1]
  • LRG_87p1:p.Tyr26fs
  • NC_000007.13:g.74191613GT[1]
  • NM_000265.4:c.75_76delGT
  • NM_000265.5:c.75_76delGT
  • NM_000265.7:c.75_76delGTMANE SELECT
Protein change:
Y26fs
Links:
OMIM: 608512.0001; dbSNP: rs4029402
NCBI 1000 Genomes Browser:
rs4029402
Molecular consequence:
  • NM_000265.7:c.75_76del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Granulomatous disease, chronic, X-linked
Synonyms:
CYTOCHROME b-NEGATIVE GRANULOMATOUS DISEASE, CHRONIC, X-LINKED; GRANULOMATOUS DISEASE, CHRONIC, X-LINKED, SOMATIC MOSAIC
Identifiers:
MONDO: MONDO:0010600; MedGen: C1844376; Orphanet: 379; OMIM: 306400

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002573423Clinic of Clinical Immunology with Stem Cell Bank, Expert Centre for Rare Diseases - PID, University Hospital "Alexandrovska"
no assertion criteria provided
Pathogenic
(May 1, 2022) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Clinic of Clinical Immunology with Stem Cell Bank, Expert Centre for Rare Diseases - PID, University Hospital "Alexandrovska", SCV002573423.1

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

Last Updated: Oct 20, 2024