NM_000433.3(NCF2):c.55_63del (p.Lys19_Asp21del) AND not provided

Clinical significance:Pathogenic (Last evaluated: May 15, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000494542.1

Allele description [Variation Report for NM_000433.3(NCF2):c.55_63del (p.Lys19_Asp21del)]

NM_000433.3(NCF2):c.55_63del (p.Lys19_Asp21del)

Gene:
NCF2:neutrophil cytosolic factor 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1q25.3
Genomic location:
Preferred name:
NM_000433.3(NCF2):c.55_63del (p.Lys19_Asp21del)
HGVS:
  • NC_000001.11:g.183590271_183590279del
  • NG_007267.1:g.5307_5315del
  • NM_000433.3:c.55_63del
  • NM_001127651.3:c.55_63del
  • NM_001190789.1:c.55_63del
  • NM_001190794.1:c.55_63del
  • NP_000424.2:p.Lys19_Asp21del
  • NP_001121123.1:p.Lys19_Asp21del
  • NP_001177718.1:p.Lys19_Asp21del
  • NP_001177723.1:p.Lys19_Asp21del
  • LRG_88t1:c.55_63del
  • LRG_88:g.5307_5315del
  • LRG_88p1:p.Lys19_Asp21del
  • NC_000001.10:g.183559406_183559414del
  • NM_000433.3:c.55_63delAAGAAGGAC
Links:
OMIM: 608515.0006; dbSNP: rs796065033
NCBI 1000 Genomes Browser:
rs796065033
Molecular consequence:
  • NM_000433.3:c.55_63del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001127651.3:c.55_63del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001190789.1:c.55_63del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001190794.1:c.55_63del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Identifiers:
MedGen: CN517202

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000582904GeneDxcriteria provided, single submitter
Pathogenic
(May 15, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000582904.4

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

Description

The c.55_63delAAGAAGGAC variant has been published previously in association with CGD (Noack et al., 1999; Patiño et al., 1999; Yu et al., 2008). The variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The variant results in the in-frame deletion of codons 19-21, and in silico analysis predicts this variant is probably damaging to the protein structure/function. In summary, we consider this variant to be pathogenic.

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

Last Updated: Feb 27, 2021

Support Center