NM_000117.3(EMD):c.646G>A (p.Gly216Arg) AND Emery-Dreifuss muscular dystrophy 1, X-linked

Clinical significance:Likely benign (Last evaluated: Oct 16, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001089148.2

Allele description [Variation Report for NM_000117.3(EMD):c.646G>A (p.Gly216Arg)]

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

Gene:
EMD:emerin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_000117.3(EMD):c.646G>A (p.Gly216Arg)
HGVS:
  • NC_000023.11:g.154381078G>A
  • NG_008677.1:g.11643G>A
  • NM_000117.2:c.646G>A
  • NM_000117.3:c.646G>AMANE SELECT
  • NP_000108.1:p.Gly216Arg
  • NP_000108.1:p.Gly216Arg
  • LRG_745t1:c.646G>A
  • LRG_745:g.11643G>A
  • LRG_745p1:p.Gly216Arg
  • NC_000023.10:g.153609438G>A
  • c.646G>A
Protein change:
G216R
Links:
dbSNP: rs147920229
NCBI 1000 Genomes Browser:
rs147920229
Molecular consequence:
  • NM_000117.2:c.646G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000117.3:c.646G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Emery-Dreifuss muscular dystrophy 1, X-linked (EDMD1)
Synonyms:
EMD-Related Cardiomyopathy; Emery-Dreifuss muscular dystrophy, X-linked; Muscular dystrophy, tardive Emery-Dreifuss type, with contractures; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010680; MedGen: C5243475; Orphanet: 261; Orphanet: 98863; OMIM: 310300

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000759705Invitaecriteria provided, single submitter
Likely benign
(Oct 16, 2020)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV000759705.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 7, 2021

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