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_000117.3(EMD):c.646G>A (p.Gly216Arg)

Help
Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(2);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 16, 2020
Accession:
VCV000042278.4
Variation ID:
42278
Description:
single nucleotide variant
Help

NM_000117.3(EMD):c.646G>A (p.Gly216Arg)

Allele ID
51448
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xq28
Genomic location
X: 154381078 (GRCh38) GRCh38 UCSC
X: 153609438 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000023.10:g.153609438G>A
NC_000023.11:g.154381078G>A
NM_000117.3:c.646G>A MANE Select NP_000108.1:p.Gly216Arg missense
... more HGVS
Protein change
G216R
Other names
-
Canonical SPDI
NC_000023.11:154381077:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00026 (A)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00010
The Genome Aggregation Database (gnomAD), exomes 0.00009
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00047
Trans-Omics for Precision Medicine (TOPMed) 0.00036
1000 Genomes Project 0.00026
The Genome Aggregation Database (gnomAD) 0.00018
Links
ClinGen: CA131136
dbSNP: rs147920229
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 2 criteria provided, single submitter Sep 12, 2017 RCV000035111.4
Uncertain significance 1 criteria provided, single submitter Apr 16, 2018 RCV000732781.3
Likely benign 1 criteria provided, single submitter Oct 16, 2020 RCV001089148.2
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
EMD - - GRCh38
GRCh37
280 521

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Sep 12, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000714790.1
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
(Oct 16, 2020)
criteria provided, single submitter
Method: clinical testing
Emery-Dreifuss muscular dystrophy 1, X-linked
Allele origin: germline
Invitae
Accession: SCV000759705.5
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Uncertain significance
(Apr 16, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000860767.1
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Uncertain significance
(May 29, 2009)
no assertion criteria provided
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000058751.4
Submitted: (Mar 21, 2019)
Evidence details

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
Title Author Journal Year Link
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=EMD - - - -

Text-mined citations for rs147920229...

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 Jul 07, 2021