NM_000489.6(ATRX):c.7200+10C>G AND Alpha thalassemia-X-linked intellectual disability syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 13, 2020
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV001279980.1

Allele description [Variation Report for NM_000489.6(ATRX):c.7200+10C>G]

NM_000489.6(ATRX):c.7200+10C>G

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.7200+10C>G

HGVS:

NC_000023.11:g.77520778G>C
NG_008838.3:g.270492C>G
NM_000489.6:c.7200+10C>GMANE SELECT
NM_138270.5:c.7086+10C>G
LRG_1153:g.270492C>G
NC_000023.10:g.76776256G>C

Links:

dbSNP: rs781824017

NCBI 1000 Genomes Browser:

rs781824017

Molecular consequence:

NM_000489.6:c.7200+10C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_138270.5:c.7086+10C>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Alpha thalassemia-X-linked intellectual disability syndrome (ATRX)
Synonyms:: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED; ATR-X syndrome; Alpha thalassemia mental retardation syndrome, nondeletion type, X-linked; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010519; MedGen: C1845055; Orphanet: 847; OMIM: 301040

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001467121	Natera, Inc.	no assertion criteria provided	Uncertain significance (Aug 13, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001467121

Natera, Inc.

no assertion criteria provided

Uncertain significance
(Aug 13, 2020)

germline

clinical testing

Help

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV001467121.1

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

Last Updated: Aug 5, 2023

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