NM_000117.3(EMD):c.646G>A (p.Gly216Arg) AND not specified

Clinical significance:Likely benign (Last evaluated: Sep 12, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000035111.4

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]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000058751Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicineno assertion criteria providedUncertain significance
(May 29, 2009)
germlineclinical testing

SCV000714790GeneDxcriteria provided, single submitter
Likely benign
(Sep 12, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical testing
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000058751.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not provided1not provided

From GeneDx, SCV000714790.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

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 a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 7, 2021

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