NM_000081.4(LYST):c.5541_5542del (p.Arg1848fs) AND Chédiak-Higashi syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 15, 2015
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:
RCV000192047.1

Allele description

NM_000081.4(LYST):c.5541_5542del (p.Arg1848fs)

Gene:
LYST:lysosomal trafficking regulator [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1q42.3
Genomic location:
Preferred name:
NM_000081.4(LYST):c.5541_5542del (p.Arg1848fs)
HGVS:
  • NC_000001.11:g.235775006_235775007del
  • NG_007397.1:g.113635_113636del
  • NM_000081.4:c.5541_5542delMANE SELECT
  • NM_001301365.1:c.5541_5542del
  • NP_000072.2:p.Arg1848fs
  • NP_001288294.1:p.Arg1848fs
  • LRG_143t2:c.5541_5542del
  • LRG_143:g.113635_113636del
  • LRG_143p2:p.Arg1848fs
  • NC_000001.10:g.235938306_235938307del
  • NM_000081.2:c.5541_5542delAA
  • NP_000072.2:p.Gln1847fsTer1850
Protein change:
R1848fs
Molecular consequence:
  • NM_000081.4:c.5541_5542del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001301365.1:c.5541_5542del - 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
SCV000207381GeneReviews
no assertion criteria provided
Pathogenic
(Jan 15, 2015) 		germlineliterature only

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedliterature only

Details of each submission

From GeneReviews, SCV000207381.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature onlynot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022