Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NC_000013.11:g.46968080_87381985del40413906

Help
Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jun 1, 2018)
Accession:
VCV000545122.1
Variation ID:
545122
Description:
40.4Mb deletion
Help

NC_000013.11:g.46968080_87381985del40413906

Allele ID
535386
Variant type
Deletion
Variant length
40,413,906 bp
Cytogenetic location
13q14.2-31.2
Genomic location
13: 46968080-87381985 (GRCh38) GRCh38 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.11:g.46968080_87381985del40413906
Protein change
-
Other names
-
Canonical SPDI
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter - RCV000721955.1
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
EDNRB Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
41 218
RB1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
1542 1635
PCDH9 No evidence available No evidence available GRCh38
GRCh37
22 87
ACOD1 - - GRCh38
GRCh37
4 61
ALG11 - - GRCh38
GRCh37
51 164
ARL11 - - GRCh38
GRCh37
2 61
ATP7B - - GRCh38
GRCh37
1315 1378
ATXN8OS - - GRCh38
GRCh37
- 71
BORA - - GRCh38
GRCh37
- 58
C13orf42 - - - GRCh38 - 31

There are 202 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38).

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(-)
criteria provided, single submitter
Method: research
Chromosome 13q14 deletion syndrome
Allele origin: de novo
Medical Cytogenetics and Molecular Genetics Laboratory,IRCCS Istituto Auxologico Italiano
Accession: SCV000748684.1
Submitted: (Jun 01, 2018)
Evidence details
Comment:
In a patient with a very mild phenotype, a de novo 13q14.13-13q31.1 mosaic deletion has been identified. Deletions in these genomic regions are responsible of … (more)

Functional evidence

Help
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

Help
Title Author Journal Year Link
13q mosaic deletion including <i>RB1</i> associated to mild phenotype and no cancer outcome - case report and review of the literature. Bestetti I Molecular cytogenetics 2018 PMID: 30250511

Record last updated Jul 13, 2021