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NM_015335.4(MED13L):c.3752G>A (p.Arg1251His)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Sep 27, 2021)
Last evaluated:
Jun 12, 2020
Accession:
VCV000701376.3
Variation ID:
701376
Description:
single nucleotide variant
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NM_015335.4(MED13L):c.3752G>A (p.Arg1251His)

Allele ID
687898
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q24.21
Genomic location
12: 115991202 (GRCh38) GRCh38 UCSC
12: 116429007 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.116429007C>T
NC_000012.12:g.115991202C>T
NG_023366.1:g.290985G>A
NM_015335.4:c.3752G>A NP_056150.1:p.Arg1251His missense
Protein change
R1251H
Other names
-
Canonical SPDI
NC_000012.12:115991201:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (T)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00027
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Exome Aggregation Consortium (ExAC) 0.00030
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
1000 Genomes Project 0.00020
Links
dbSNP: rs142574863
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Jun 12, 2020 RCV000869888.2
Likely benign 1 criteria provided, single submitter Apr 5, 2018 RCV001418777.1
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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
506 523

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Apr 17, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001011349.1
Submitted: (Mar 14, 2019)
Evidence details
Likely benign
(Apr 05, 2018)
criteria provided, single submitter
Method: clinical testing
Transposition of the great arteries, dextro-looped 1
Allele origin: germline
Invitae
Accession: SCV001621014.1
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Jun 12, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001938968.1
Submitted: (Sep 27, 2021)
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 rs142574863...

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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