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NM_001301365.1(LYST):c.5317del (p.Arg1773fs) AND Chédiak-Higashi syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 16, 2012
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:
RCV000055737.1

Allele description

NM_001301365.1(LYST):c.5317del (p.Arg1773fs)

Gene:
LYST:lysosomal trafficking regulator [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1q42.3
Genomic location:
Preferred name:
NM_001301365.1(LYST):c.5317del (p.Arg1773fs)
HGVS:
  • NC_000001.11:g.235777208del
  • NG_007397.1:g.111435del
  • NM_000081.3:c.5317del
  • NM_001301365.1:c.5317del
  • NP_000072.2:p.Arg1773fs
  • NP_001288294.1:p.Arg1773fs
  • LRG_143t1:c.5317del
  • LRG_143t2:c.5317del
  • LRG_143:g.111435del
  • LRG_143p1:p.Arg1773fs
  • LRG_143p2:p.Arg1773fs
  • NC_000001.10:g.235940508del
  • NM_000081.2:c.5317delA
Protein change:
R1773fs
Molecular consequence:
  • NM_000081.3:c.5317del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001301365.1:c.5317del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Chédiak-Higashi syndrome (CHS)
Synonyms:
Chediak-Higashi Syndrome
Identifiers:
MONDO: MONDO:0008963; MedGen: C0007965; Orphanet: 167; OMIM: 214500

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000086675GeneReviews
no assertion criteria provided
pathologic
(Feb 16, 2012) 		not providedcuration

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot providednot providednot providedcuration

Details of each submission

From GeneReviews, SCV000086675.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Converted during submission to Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

Last Updated: Oct 23, 2020