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NM_000489.6(ATRX):c.4338GGA[1] (p.Glu1448del) AND not provided

Germline classification:
Likely benign (1 submission)
Last evaluated:
Mar 25, 2020
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV002052362.2

Allele description [Variation Report for NM_000489.6(ATRX):c.4338GGA[1] (p.Glu1448del)]

NM_000489.6(ATRX):c.4338GGA[1] (p.Glu1448del)

Gene:
ATRX:ATRX chromatin remodeler [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
Xq21.1
Genomic location:
Preferred name:
NM_000489.6(ATRX):c.4338GGA[1] (p.Glu1448del)
HGVS:
  • NC_000023.11:g.77652330CTC[1]
  • NG_008838.3:g.138937GGA[1]
  • NM_000489.6:c.4338GGA[1]MANE SELECT
  • NM_138270.5:c.4224GGA[1]
  • NP_000480.3:p.Glu1448del
  • NP_612114.2:p.Glu1410del
  • LRG_1153:g.138937GGA[1]
  • NC_000023.10:g.76907818_76907820del
  • NC_000023.10:g.76907820CTC[1]
  • NM_000489.3:c.4341_4343del
  • NM_000489.3:c.4341_4343delGGA
Protein change:
E1410del
Links:
dbSNP: rs782410402
NCBI 1000 Genomes Browser:
rs782410402
Molecular consequence:
  • NM_000489.6:c.4338GGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_138270.5:c.4224GGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]

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
SCV002319105GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Likely benign
(Mar 25, 2020) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV002319105.2

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

Last Updated: Sep 29, 2024