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NM_000489.6(ATRX):c.7156C>T (p.Arg2386Ter) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
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:
RCV000735339.2

Allele description [Variation Report for NM_000489.6(ATRX):c.7156C>T (p.Arg2386Ter)]

NM_000489.6(ATRX):c.7156C>T (p.Arg2386Ter)

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.7156C>T (p.Arg2386Ter)
Other names:
R1528*
HGVS:
  • NC_000023.11:g.77520832G>A
  • NG_008838.3:g.270438C>T
  • NM_000489.6:c.7156C>TMANE SELECT
  • NM_138270.5:c.7042C>T
  • NP_000480.3:p.Arg2386Ter
  • NP_612114.2:p.Arg2348Ter
  • LRG_1153:g.270438C>T
  • NC_000023.10:g.76776310G>A
  • NM_000489.4:c.7156C>T
Protein change:
R2348*; ARG1528TER
Links:
OMIM: 300032.0008; dbSNP: rs122445099
NCBI 1000 Genomes Browser:
rs122445099
Molecular consequence:
  • NM_000489.6:c.7156C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_138270.5:c.7042C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Cryptorchidism
Synonyms:
undescended testicle
Identifiers:
MONDO: MONDO:0009047; MedGen: C0010417; OMIM: 219050; Human Phenotype Ontology: HP:0000028
Name:
Bone osteosarcoma
Synonyms:
Osteosarcoma, somatic
Identifiers:
MONDO: MONDO:0002629; MedGen: C0585442; Orphanet: 668; OMIM: 259500
Name:
Ambiguous genitalia
Identifiers:
MedGen: C0266362; Human Phenotype Ontology: HP:0000062
Name:
Microcephaly
Synonyms:
Microcephaly (disease)
Identifiers:
MONDO: MONDO:0001149; MedGen: C4551563; Human Phenotype Ontology: HP:0000252
Name:
Intellectual disability, severe
Identifiers:
MedGen: C0036857; Human Phenotype Ontology: HP:0010864

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000854495Center for Personalized Medicine, Children's Hospital Los Angeles
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenicgermlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Center for Personalized Medicine, Children's Hospital Los Angeles, SCV000854495.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing
(GTR000552474.2)		 PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot provideddiscovery
(GTR000552474.2)		not providednot providednot providednot provided

Last Updated: Nov 10, 2024