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NM_015335.4(MED13L):c.3942_3943del (p.Ile1315fs)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: May 15, 2019)
Last evaluated:
Mar 30, 2016
Accession:
VCV000559866.2
Variation ID:
559866
Description:
2bp deletion
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NM_015335.4(MED13L):c.3942_3943del (p.Ile1315fs)

Allele ID
550621
Variant type
Deletion
Variant length
2 bp
Cytogenetic location
12q24.21
Genomic location
12: 115987280-115987281 (GRCh38) GRCh38 UCSC
12: 116425085-116425086 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.116425086_116425087del
NC_000012.12:g.115987281_115987282del
NG_023366.1:g.294906_294907del
... more HGVS
Protein change
I1315fs
Other names
-
Canonical SPDI
NC_000012.12:115987279:TGT:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1555244212
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 criteria provided, single submitter Mar 30, 2016 RCV000677654.1
Likely pathogenic 1 criteria provided, single submitter - RCV000850460.1
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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
(Mar 30, 2016)
criteria provided, single submitter
Method: clinical testing
Mental retardation and distinctive facial features with or without cardiac defects
Allele origin: de novo
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
Study: Clinvar_gadteam_Clinical_exome_analysis_3
Accession: SCV000803789.1
Submitted: (Feb 06, 2018)
Evidence details
Likely pathogenic
(-)
criteria provided, single submitter
Method: research
Marfanoid habitus and intellectual disability
Allele origin: de novo
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
Accession: SCV000992658.1
Submitted: (May 15, 2019)
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.

Text-mined citations for rs1555244212...

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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