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GRCh38/hg38 12q24.21(chr12:116019418-116054358)x1

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jun 21, 2014)
Last evaluated:
Aug 12, 2011
Accession:
VCV000057607.1
Variation ID:
57607
Description:
34.9kb copy number loss
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GRCh38/hg38 12q24.21(chr12:116019418-116054358)x1

Allele ID
72202
Variant type
copy number loss
Variant length
34,941 bp
Cytogenetic location
12q24.21
Genomic location
12: 116019418-116054358 (GRCh38) GRCh38 UCSC
12: 116457223-116492163 (GRCh37) GRCh37 UCSC
12: 114941606-114976546 (NCBI36) NCBI36 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.10:g.(?_114941606)_(114976546_?)del
NC_000012.12:g.(?_116019418)_(116054358_?)del
NC_000012.11:g.(?_116457223)_(116492163_?)del
Protein change
-
Other names
-
Canonical SPDI
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbVar: nssv577405
dbVar: nsv529864
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 Aug 12, 2011 RCV000051340.4

Clinical features observed in individuals with this variant

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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
506 523

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Aug 12, 2011)
criteria provided, single submitter
Method: clinical testing
See cases
Allele origin: de novo
GeneDx
Accession: SCV000078686.4
Submitted: (Jun 21, 2014)
Evidence details

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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Mar 07, 2021