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NM_015335.4(MED13L):c.5162C>T (p.Ser1721Phe)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Jul 9, 2019
Accession:
VCV000640132.3
Variation ID:
640132
Description:
single nucleotide variant
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NM_015335.4(MED13L):c.5162C>T (p.Ser1721Phe)

Allele ID
640646
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q24.21
Genomic location
12: 115982397 (GRCh38) GRCh38 UCSC
12: 116420202 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.116420202G>A
NC_000012.12:g.115982397G>A
NG_023366.1:g.299790C>T
NM_015335.4:c.5162C>T NP_056150.1:p.Ser1721Phe missense
Protein change
S1721F
Other names
-
Canonical SPDI
NC_000012.12:115982396:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00002
The Genome Aggregation Database (gnomAD), exomes 0.00002
Exome Aggregation Consortium (ExAC) 0.00002
Links
dbSNP: rs755513948
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jul 9, 2019 RCV000793090.3
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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
Uncertain significance
(Jul 09, 2019)
criteria provided, single submitter
Method: clinical testing
Transposition of the great arteries, dextro-looped 1
Allele origin: germline
Invitae
Accession: SCV000932429.3
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces serine with phenylalanine at codon 1721 of the MED13L protein (p.Ser1721Phe). The serine residue is moderately conserved and there is a … (more)

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 rs755513948...

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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 Oct 06, 2021