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NM_015335.5(MED13L):c.3284_3285del (p.Val1095fs)

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Interpretation:
Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: May 5, 2020)
Last evaluated:
Jan 1, 2019
Accession:
VCV000975439.1
Variation ID:
975439
Description:
2bp microsatellite
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NM_015335.5(MED13L):c.3284_3285del (p.Val1095fs)

Allele ID
963747
Variant type
Microsatellite
Variant length
2 bp
Cytogenetic location
12q24.21
Genomic location
12: 115991669-115991670 (GRCh38) GRCh38 UCSC
12: 116429474-116429475 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.116429474CA[1]
NC_000012.12:g.115991669CA[1]
NG_023366.1:g.290515TG[1]
NM_015335.5:c.3284_3285del MANE Select NP_056150.1:p.Val1095fs frameshift
Protein change
V1095fs
Other names
-
Canonical SPDI
NC_000012.12:115991668:CACA:CA
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
Likely pathogenic 1 no assertion criteria provided Jan 1, 2019 RCV001252064.1
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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
Likely pathogenic
(Jan 01, 2019)
no assertion criteria provided
Method: clinical testing
Mental retardation and distinctive facial features with or without cardiac defects
Allele origin: unknown
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille
Accession: SCV001427812.1
Submitted: (May 05, 2020)
Evidence details
Publications
PubMed (1)

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
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Richards S Genetics in medicine : official journal of the American College of Medical Genetics 2015 PMID: 25741868

Record last updated Sep 25, 2021