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NM_015335.4(MED13L):c.516_517delinsAT (p.His172_Gly173delinsGlnTer)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Apr 6, 2018)
Last evaluated:
Jan 25, 2018
Accession:
VCV000520431.1
Variation ID:
520431
Description:
2bp indel
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NM_015335.4(MED13L):c.516_517delinsAT (p.His172_Gly173delinsGlnTer)

Allele ID
511031
Variant type
Indel
Variant length
2 bp
Cytogenetic location
12q24.21
Genomic location
12: 116022564-116022565 (GRCh38) GRCh38 UCSC
12: 116460369-116460370 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.116460369_116460370delinsAT
NC_000012.12:g.116022564_116022565delinsAT
NG_023366.1:g.259622_259623delinsAT
Protein change
-
Other names
-
Canonical SPDI
NC_000012.12:116022563:CA:AT
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA658797961
dbSNP: rs1555250044
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 Jan 25, 2018 RCV000624742.1
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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
Pathogenic
(Jan 25, 2018)
criteria provided, single submitter
Method: research
Mental retardation and distinctive facial features with or without cardiac defects
Allele origin: de novo
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues
Accession: SCV000740314.1
Submitted: (Apr 06, 2018)
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 rs1555250044...

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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