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NC_000023.10:g.(?_109919459)_(110653626_?)del AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 28, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV004582224.2

Allele description [Variation Report for NC_000023.10:g.(?_109919459)_(110653626_?)del]

NC_000023.10:g.(?_109919459)_(110653626_?)del

Genes:
CAPN6:calpain 6 [Gene - OMIM - HGNC]
CHRDL1:chordin like 1 [Gene - OMIM - HGNC]
DCX:doublecortin [Gene - OMIM - HGNC]
PAK3:p21 (RAC1) activated kinase 3 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
Xq23
Genomic location:
ChrX: 109919459 - 110653626 (on Assembly GRCh37)
Preferred name:
NC_000023.10:g.(?_109919459)_(110653626_?)del
HGVS:
NC_000023.10:g.(?_109919459)_(110653626_?)del

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005066347Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Nov 28, 2023) 		unknownclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia.

Matsumoto N, Leventer RJ, Kuc JA, Mewborn SK, Dudlicek LL, Ramocki MB, Pilz DT, Mills PL, Das S, Ross ME, Ledbetter DH, Dobyns WB.

Eur J Hum Genet. 2001 Jan;9(1):5-12.

PubMed [citation]
PMID:
11175293

New insights into genotype-phenotype correlations for the doublecortin-related lissencephaly spectrum.

Bahi-Buisson N, Souville I, Fourniol FJ, Toussaint A, Moores CA, Houdusse A, Lemaitre JY, Poirier K, Khalaf-Nazzal R, Hully M, Leger PL, Elie C, Boddaert N, Beldjord C, Chelly J, Francis F; SBH-LIS European Consortium..

Brain. 2013 Jan;136(Pt 1):223-44. doi: 10.1093/brain/aws323.

PubMed [citation]
PMID:
23365099
PMCID:
PMC3562079
See all PubMed Citations (4)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV005066347.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

A gross deletion of the genomic region encompassing the full coding sequence of the DCX gene has been identified. Loss-of-function variants in DCX are known to be pathogenic (PMID: 11175293, 23365099). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. A similar copy number variant has been observed in individual(s) with clinical features of DCX-related conditions (PMID: 31481326). For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Sep 29, 2024