NM_000489.6(ATRX):c.7394del (p.Gly2465fs) AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 7, 2012
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:: RCV000078973.4

Allele description

NM_000489.6(ATRX):c.7394del (p.Gly2465fs)

Gene:

ATRX:ATRX chromatin remodeler [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

Xq21.1

Genomic location:

Preferred name:

NM_000489.6(ATRX):c.7394del (p.Gly2465fs)

HGVS:

NC_000023.11:g.77508437del
NG_008838.3:g.282834del
NM_000489.6:c.7394delMANE SELECT
NM_138270.5:c.7280del
NP_000480.3:p.Gly2465fs
NP_612114.2:p.Gly2427fs
LRG_1153:g.282834del
NC_000023.10:g.76763915del
NM_000489.3:c.7394delG

Protein change:

G2427fs

Links:

dbSNP: rs398123428

NCBI 1000 Genomes Browser:

rs398123428

Molecular consequence:

NM_000489.6:c.7394del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_138270.5:c.7280del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

Condition(s)

Identifiers:: MedGen: CN517202

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000110838	EGL Genetic Diagnostics, Eurofins Clinical Diagnostics	criteria provided, single submitter (EGL Classification Definitions 2015)	Pathogenic (Aug 7, 2012)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000110838

EGL Genetic Diagnostics, Eurofins Clinical Diagnostics

criteria provided, single submitter

(EGL Classification Definitions 2015)

Pathogenic
(Aug 7, 2012)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	2	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000110838.8

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	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		2	not provided	not provided	not provided

Last Updated: Oct 25, 2021

ClinVar

Relating variation to medicine