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NM_000489.6(ATRX):c.4332AGA[1] (p.Glu1448del) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 24, 2021
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:
RCV002487861.1

Allele description [Variation Report for NM_000489.6(ATRX):c.4332AGA[1] (p.Glu1448del)]

NM_000489.6(ATRX):c.4332AGA[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.4332AGA[1] (p.Glu1448del)
HGVS:
  • NC_000023.11:g.77652336TTC[1]
  • NG_008838.3:g.138931AGA[1]
  • NM_000489.6:c.4332AGA[1]MANE SELECT
  • NM_138270.5:c.4218AGA[1]
  • NP_000480.3:p.Glu1448del
  • NP_612114.2:p.Glu1410del
  • LRG_1153:g.138931AGA[1]
  • NC_000023.10:g.76907824_76907826del
  • NC_000023.10:g.76907826TTC[1]
  • NM_000489.4:c.4335_4337delAGA
  • NM_000489.6:c.4335_4337delMANE SELECT
Protein change:
E1410del
Links:
dbSNP: rs1356648720
NCBI 1000 Genomes Browser:
rs1356648720
Molecular consequence:
  • NM_000489.6:c.4332AGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_138270.5:c.4218AGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:
Acquired hemoglobin H disease (ATMDS)
Synonyms:
Alpha-thalassemia myelodysplasia syndrome, somatic; Alpha-thalassemia-myelodysplastic syndrome; Alpha-thalassemia myelodysplasia syndrome
Identifiers:
MONDO: MONDO:0010328; MedGen: C0585216; Orphanet: 231401; OMIM: 300448
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
Name:
Intellectual disability-hypotonic facies syndrome, X-linked, 1
Synonyms:
XLMR-HYPOTONIC FACIES SYNDROME; Mental retardation-hypotonic facies syndrome X-linked, 1; Smith Fineman Myers syndrome 1; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010663; MedGen: C4759781; Orphanet: 73220; Orphanet: 93970; Orphanet: 93971; Orphanet: 93972; Orphanet: 93973; Orphanet: 93974; Orphanet: 93975; OMIM: 309580

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002785283Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Aug 24, 2021) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot 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 Fulgent Genetics, Fulgent Genetics, SCV002785283.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024