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NM_001195553.2(DCX):c.602AGA[1] (p.Lys202del) AND Lissencephaly type 1 due to doublecortin gene mutation

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 17, 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:
RCV002464043.2

Allele description [Variation Report for NM_001195553.2(DCX):c.602AGA[1] (p.Lys202del)]

NM_001195553.2(DCX):c.602AGA[1] (p.Lys202del)

Gene:
DCX:doublecortin [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
Xq23
Genomic location:
Preferred name:
NM_001195553.2(DCX):c.602AGA[1] (p.Lys202del)
HGVS:
  • NC_000023.11:g.111401089CTT[1]
  • NG_011750.1:g.16086AGA[1]
  • NM_000555.3:c.845AGA[1]
  • NM_001195553.2:c.602AGA[1]MANE SELECT
  • NM_001369370.1:c.602AGA[1]
  • NM_001369371.1:c.602AGA[1]
  • NM_001369372.1:c.602AGA[1]
  • NM_001369373.1:c.602AGA[1]
  • NM_001369374.1:c.602AGA[1]
  • NM_178151.3:c.602AGA[1]
  • NM_178152.3:c.602AGA[1]
  • NM_178153.3:c.602AGA[1]
  • NP_000546.2:p.Lys283del
  • NP_001182482.1:p.Lys202del
  • NP_001356299.1:p.Lys202del
  • NP_001356300.1:p.Lys202del
  • NP_001356301.1:p.Lys202del
  • NP_001356302.1:p.Lys202del
  • NP_001356303.1:p.Lys202del
  • NP_835364.1:p.Lys202del
  • NP_835365.1:p.Lys202del
  • NP_835366.1:p.Lys202del
  • NC_000023.10:g.110644317CTT[1]
  • NM_178151.3:c.605_607del
Protein change:
K202del
Molecular consequence:
  • NM_000555.3:c.845AGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001195553.2:c.602AGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001369370.1:c.602AGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001369371.1:c.602AGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001369372.1:c.602AGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001369373.1:c.602AGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001369374.1:c.602AGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_178151.3:c.602AGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_178152.3:c.602AGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_178153.3:c.602AGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
Observations:
1

Condition(s)

Name:
Lissencephaly type 1 due to doublecortin gene mutation
Synonyms:
LISSENCEPHALY, X-LINKED, 1; Lissencephaly and agenesis of corpus callosum
Identifiers:
MONDO: MONDO:0010239; MedGen: C4551968; Orphanet: 2148; OMIM: 300067

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002524170Istanbul Faculty of Medicine, Istanbul University
no assertion criteria provided
Pathogenic
(May 17, 2022) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Istanbul Faculty of Medicine, Istanbul University, SCV002524170.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

de novo in patient

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: May 26, 2024