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NM_000432.4(MYL2):c.36C>T (p.Gly12=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
6 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 3, 2020
Accession:
VCV000043472.9
Variation ID:
43472
Description:
single nucleotide variant
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NM_000432.4(MYL2):c.36C>T (p.Gly12=)

Allele ID
52642
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q24.11
Genomic location
12: 110919161 (GRCh38) GRCh38 UCSC
12: 111356965 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.111356965G>A
NC_000012.12:g.110919161G>A
NM_000432.4:c.36C>T MANE Select NP_000423.2:p.Gly12= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000012.12:110919160:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00100 (A)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00067
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00038
Exome Aggregation Consortium (ExAC) 0.00016
The Genome Aggregation Database (gnomAD), exomes 0.00015
1000 Genomes Project 0.00100
Trans-Omics for Precision Medicine (TOPMed) 0.00069
Links
ClinGen: CA010220
dbSNP: rs139794370
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 3 criteria provided, multiple submitters, no conflicts Aug 24, 2020 RCV000036399.5
Benign 1 criteria provided, single submitter Dec 3, 2020 RCV000457321.6
Likely benign 1 criteria provided, single submitter Feb 1, 2017 RCV000622196.1
Benign 1 criteria provided, single submitter Nov 25, 2018 RCV001178576.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
LOC114827850 - - - GRCh38 - 81
MYL2 - - GRCh38
GRCh37
253 341

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Nov 29, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000513818.4
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)
Likely benign
(Aug 22, 2013)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000060054.6
Submitted: (Mar 21, 2019)
Evidence details
Comment:
Gly12Gly in exon 2 of MYL2: This variant is not expected to have clinical signif icance because it does not alter an amino acid residue … (more)
Benign
(Nov 25, 2018)
criteria provided, single submitter
Method: clinical testing
Cardiomyopathy
Allele origin: germline
Color Health, Inc
Accession: SCV001343048.1
Submitted: (May 19, 2020)
Evidence details
Likely benign
(Feb 01, 2017)
criteria provided, single submitter
Method: clinical testing
Cardiovascular phenotype
Allele origin: germline
Ambry Genetics
Accession: SCV000740092.3
Submitted: (Nov 30, 2020)
Evidence details
Comment:
Synonymous alterations with insufficient evidence to classify as benign
Benign
(Dec 03, 2020)
criteria provided, single submitter
Method: clinical testing
Familial hypertrophic cardiomyopathy 10
Allele origin: germline
Invitae
Accession: SCV000560086.6
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Aug 24, 2020)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001432011.1
Submitted: (Sep 09, 2020)
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 rs139794370...

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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 Jul 07, 2021