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:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000150398	Genetic Services Laboratory, University of Chicago	criteria provided, single submitter (ACMG Guidelines, 2007)	Uncertain significance (Nov 13, 2013)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000226230	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Uncertain significance (Aug 27, 2014)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000150398

Genetic Services Laboratory, University of Chicago

criteria provided, single submitter

(ACMG Guidelines, 2007)

Uncertain significance
(Nov 13, 2013)

germline

clinical testing

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

SCV000226230

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Uncertain significance
(Aug 27, 2014)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
	germline	unknown	1	not provided	not provided	not provided	not provided	clinical 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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1		not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Eurofins Ntd Llc (ga), SCV000226230.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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