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NM_015335.5(MED13L):c.6274C>G (p.Gln2092Glu)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Apr 20, 2020)
Last evaluated:
Dec 12, 2016
Accession:
VCV000976386.1
Variation ID:
976386
Description:
single nucleotide variant
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NM_015335.5(MED13L):c.6274C>G (p.Gln2092Glu)

Allele ID
964373
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q24.21
Genomic location
12: 115966195 (GRCh38) GRCh38 UCSC
12: 116404000 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.116404000G>C
NC_000012.12:g.115966195G>C
NG_023366.1:g.315992C>G
NM_015335.5:c.6274C>G MANE Select NP_056150.1:p.Gln2092Glu missense
Protein change
Q2092E
Other names
-
Canonical SPDI
NC_000012.12:115966194:G:C
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
Uncertain significance 1 criteria provided, single submitter Dec 12, 2016 RCV001253671.1
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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
Uncertain significance
(Dec 12, 2016)
criteria provided, single submitter
Method: clinical testing
Mental retardation and distinctive facial features with or without cardiac defects
Allele origin: germline
Institute of Human Genetics, University of Leipzig Medical Center
Accession: SCV001429510.1
Submitted: (Apr 20, 2020)
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 Sep 25, 2021