NM_000489.6(ATRX):c.4130A>G (p.Glu1377Gly) AND not provided

Clinical significance:Uncertain significance (Last evaluated: May 3, 2020)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000271653.4

Allele description [Variation Report for NM_000489.6(ATRX):c.4130A>G (p.Glu1377Gly)]

NM_000489.6(ATRX):c.4130A>G (p.Glu1377Gly)

Gene:
ATRX:ATRX chromatin remodeler [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq21.1
Genomic location:
Preferred name:
NM_000489.6(ATRX):c.4130A>G (p.Glu1377Gly)
HGVS:
  • NC_000023.11:g.77656644T>C
  • NG_008838.3:g.134626A>G
  • NM_000489.6:c.4130A>GMANE SELECT
  • NM_138270.4:c.4016A>G
  • NM_138270.5:c.4016A>G
  • NP_000480.3:p.Glu1377Gly
  • NP_612114.2:p.Glu1339Gly
  • NP_612114.2:p.Glu1339Gly
  • LRG_1153:g.134626A>G
  • NC_000023.10:g.76912134T>C
  • NM_000489.3:c.4130A>G
Protein change:
E1339G
Links:
dbSNP: rs782553301
NCBI 1000 Genomes Browser:
rs782553301
Molecular consequence:
  • NM_000489.6:c.4130A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_138270.4:c.4016A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_138270.5:c.4016A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000337634EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Uncertain significance
(Dec 7, 2015)
germlineclinical testing

Citation Link,

SCV001251765Genomic Research Center,Shahid Beheshti University of Medical Sciencescriteria provided, single submitter
Uncertain significance
(May 3, 2020)
unknownclinical testing

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

SCV002007796GeneDxcriteria provided, single submitter
Uncertain significance
(Jul 3, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing
not providedunknownyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000337634.4

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

From Genomic Research Center,Shahid Beheshti University of Medical Sciences, SCV001251765.1

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

From GeneDx, SCV002007796.1

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

Description

In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge

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

Last Updated: Nov 27, 2021

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