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NM_005120.3(MED12):c.438A>G (p.Leu146=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 2, 2020
Accession:
VCV000167282.6
Variation ID:
167282
Description:
single nucleotide variant
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NM_005120.3(MED12):c.438A>G (p.Leu146=)

Allele ID
177829
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xq13.1
Genomic location
X: 71120055 (GRCh38) GRCh38 UCSC
X: 70339905 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000023.10:g.70339905A>G
NC_000023.11:g.71120055A>G
NM_005120.3:c.438A>G MANE Select NP_005111.2:p.Leu146= synonymous
NG_012808.1:g.6500A>G
Protein change
-
Other names
-
Canonical SPDI
NC_000023.11:71120054:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00026 (G)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00142
Exome Aggregation Consortium (ExAC) 0.00025
The Genome Aggregation Database (gnomAD) 0.00069
Trans-Omics for Precision Medicine (TOPMed) 0.00115
1000 Genomes Project 0.00026
The Genome Aggregation Database (gnomAD), exomes 0.00018
Links
ClinGen: CA295624
dbSNP: rs35068602
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 2 criteria provided, multiple submitters, no conflicts Feb 6, 2015 RCV000153478.5
Benign 1 criteria provided, single submitter Nov 2, 2020 RCV000541216.5
Likely benign 1 criteria provided, single submitter Mar 3, 2016 RCV000618426.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MED12 No evidence available No evidence available GRCh38
GRCh37
801 935

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Feb 06, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000250582.11
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Benign
(Feb 20, 2014)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000202988.7
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely benign
(Mar 03, 2016)
criteria provided, single submitter
Method: clinical testing
Cardiovascular phenotype
Allele origin: germline
Ambry Genetics
Accession: SCV000739130.3
Submitted: (Nov 30, 2020)
Evidence details
Comment:
Synonymous alterations with insufficient evidence to classify as benign
Benign
(Nov 02, 2020)
criteria provided, single submitter
Method: clinical testing
FG syndrome 1
Allele origin: germline
Invitae
Accession: SCV000630351.5
Submitted: (Jan 07, 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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Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=MED12 - - - -

Text-mined citations for rs35068602...

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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 Aug 13, 2021