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GRCh37/hg19 12q24.21(chr12:116064267-116750726)x1

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Apr 27, 2017)
Last evaluated:
Jan 25, 2017
Accession:
VCV000424638.1
Variation ID:
424638
Description:
copy number loss
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GRCh37/hg19 12q24.21(chr12:116064267-116750726)x1

Allele ID
411539
Variant type
copy number loss
Variant length
-
Cytogenetic location
12q24.21
Genomic location
12: 116012278-116783516 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.(116012278_116064267)_(116750726_116783516)del
Protein change
-
Other names
-
Canonical SPDI
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Jan 25, 2017 RCV000487467.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MED13L Sufficient evidence for dosage pathogenicity Little evidence for dosage pathogenicity GRCh38
GRCh37
503 520

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jan 25, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: unknown
Clinical Genetics laboratory, University of Goettingen
Accession: SCV000574559.1
Submitted: (Apr 27, 2017)
Evidence details
Publications
PubMed (2)
Comment:
deletion comprises the MED13L gene that is associated with the MED13L haploinsufficiency syndrome (OMIM # 616789)

Functional evidence

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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

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Title Author Journal Year Link
Redefining the MED13L syndrome. Adegbola A European journal of human genetics : EJHG 2015 PMID: 25758992
Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome. Cafiero C European journal of human genetics : EJHG 2015 PMID: 25712080

Record last updated Mar 07, 2021