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NM_015335.5(MED13L):c.5152_5153del (p.Met1718fs)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Feb 14, 2017)
Accession:
VCV000375611.1
Variation ID:
375611
Description:
2bp microsatellite
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NM_015335.5(MED13L):c.5152_5153del (p.Met1718fs)

Allele ID
362425
Variant type
Microsatellite
Variant length
2 bp
Cytogenetic location
12q24.21
Genomic location
12: 115982406-115982407 (GRCh38) GRCh38 UCSC
12: 116420211-116420212 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_015335.4:c.5152_5153del frameshift
NC_000012.11:g.116420211AT[1]
NC_000012.12:g.115982406AT[1]
... more HGVS
Protein change
M1718fs
Other names
-
Canonical SPDI
NC_000012.12:115982405:ATAT:AT
Functional consequence
termination codon change [Variation Ontology VariO:0309]
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA645372920
dbSNP: rs1555243059
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided - RCV000498873.1
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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
506 523

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(-)
no assertion criteria provided
Method: clinical testing
Mental retardation and distinctive facial features with or without cardiac defects
(Autosomal dominant inheritance)
Allele origin: de novo
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille
Accession: SCV000485012.1
Submitted: (Feb 14, 2017)
Evidence details

Functional evidence

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Functional consequence Method Result Submitter Supporting information
termination codon change
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille
Accession: SCV000485012.1
Submitted: (Feb 14, 2017)
Evidence details

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.

Text-mined citations for rs1555243059...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Sep 25, 2021