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NM_000489.6(ATRX):c.4347AGA[1] (p.Glu1464del) AND not provided

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Aug 27, 2014
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000116467.14

Allele description [Variation Report for NM_000489.6(ATRX):c.4347AGA[1] (p.Glu1464del)]

NM_000489.6(ATRX):c.4347AGA[1] (p.Glu1464del)

Gene:
ATRX:ATRX chromatin remodeler [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
Xq21.1
Genomic location:
Preferred name:
NM_000489.6(ATRX):c.4347AGA[1] (p.Glu1464del)
HGVS:
  • NC_000023.11:g.77652320CTT[1]
  • NG_008838.3:g.138946AGA[1]
  • NM_000489.6:c.4347AGA[1]MANE SELECT
  • NM_138270.5:c.4233AGA[1]
  • NP_000480.3:p.Glu1464del
  • NP_612114.2:p.Glu1426del
  • LRG_1153:g.138946AGA[1]
  • NC_000023.10:g.76907809_76907811del
  • NC_000023.10:g.76907810CTT[1]
  • NM_000489.3:c.4350_4352del
  • NM_000489.4:c.4350_4352del
  • NM_000489.4:c.4350_4352delAGA
  • NM_000489.5:c.4350_4352delAGA
Protein change:
E1426del
Links:
dbSNP: rs587780288
NCBI 1000 Genomes Browser:
rs587780288
Molecular consequence:
  • NM_000489.6:c.4347AGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_138270.5:c.4233AGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000150398Genetic Services Laboratory, University of Chicago
criteria provided, single submitter

(ACMG Guidelines, 2007)		Uncertain significance
(Nov 13, 2013) 		germlineclinical testing

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

SCV000226230Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)		Uncertain significance
(Aug 27, 2014) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
germlineunknown1not providednot providednot providednot providedclinical testing

Citations

PubMed

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007.

Richards CS, Bale S, Bellissimo DB, Das S, Grody WW, Hegde MR, Lyon E, Ward BE; Molecular Subcommittee of the ACMG Laboratory Quality Assurance Committee..

Genet Med. 2008 Apr;10(4):294-300. doi: 10.1097/GIM.0b013e31816b5cae.

PubMed [citation]
PMID:
18414213

Details of each submission

From Genetic Services Laboratory, University of Chicago, SCV000150398.1

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

From Eurofins Ntd Llc (ga), SCV000226230.5

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

Last Updated: Feb 20, 2024