Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_015335.5(MED13L):c.6545A>G (p.Asn2182Ser)

Help
Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Oct 5, 2017)
Last evaluated:
Apr 20, 2017
Accession:
VCV000464495.1
Variation ID:
464495
Description:
single nucleotide variant
Help

NM_015335.5(MED13L):c.6545A>G (p.Asn2182Ser)

Allele ID
462193
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q24.21
Genomic location
12: 115961354 (GRCh38) GRCh38 UCSC
12: 116399159 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_015335.4:c.6545A>G NP_056150.1:p.Asn2182Ser missense
NC_000012.11:g.116399159T>C
NC_000012.12:g.115961354T>C
... more HGVS
Protein change
N2182S
Other names
-
Canonical SPDI
NC_000012.12:115961353:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00006
The Genome Aggregation Database (gnomAD), exomes 0.00008
Trans-Omics for Precision Medicine (TOPMed) 0.00006
Exome Aggregation Consortium (ExAC) 0.00008
Links
ClinGen: CA6810336
dbSNP: rs762926166
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Apr 20, 2017 RCV000532583.1
Help
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

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Apr 20, 2017)
criteria provided, single submitter
Method: clinical testing
Transposition of the great arteries, dextro-looped 1
Allele origin: germline
Invitae
Accession: SCV000639023.1
Submitted: (Oct 05, 2017)
Evidence details
Comment:
This sequence change replaces asparagine with serine at codon 2182 of the MED13L protein (p.Asn2182Ser). The asparagine residue is highly conserved and there is a … (more)

Functional evidence

Help
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

Help
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 rs762926166...

Help
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 Oct 24, 2021