U.S. flag

An official website of the United States government

NM_000489.6(ATRX):c.3211G>A (p.Gly1071Arg) AND multiple conditions

Clinical significance:Uncertain significance (Last evaluated: Oct 31, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000764880.1

Allele description [Variation Report for NM_000489.6(ATRX):c.3211G>A (p.Gly1071Arg)]

NM_000489.6(ATRX):c.3211G>A (p.Gly1071Arg)

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.3211G>A (p.Gly1071Arg)
HGVS:
  • NC_000023.11:g.77682045C>T
  • NG_008838.3:g.109225G>A
  • NM_000489.6:c.3211G>AMANE SELECT
  • NM_138270.5:c.3097G>A
  • NP_000480.3:p.Gly1071Arg
  • NP_612114.2:p.Gly1033Arg
  • LRG_1153:g.109225G>A
  • NC_000023.10:g.76937537C>T
  • NM_000489.3:c.3211G>A
  • NM_000489.4:c.3211G>A
Protein change:
G1033R
Links:
dbSNP: rs143621153
NCBI 1000 Genomes Browser:
rs143621153
Molecular consequence:
  • NM_000489.6:c.3211G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_138270.5:c.3097G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Acquired hemoglobin H disease (ATMDS)
Synonyms:
Alpha-thalassemia myelodysplasia syndrome, somatic; 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; X-linked intellectual disability-hypotonic face syndrome
Identifiers:
MONDO: MONDO:0010663; MedGen: C4759781; Orphanet: 73220; Orphanet: 93970; Orphanet: 93971; Orphanet: 93972; Orphanet: 93973; Orphanet: 93974; Orphanet: 93975; OMIM: 309580

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000896036Fulgent Genetics,Fulgent Geneticscriteria provided, single submitter
Uncertain significance
(Oct 31, 2018)
unknownclinical testing

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

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, SCV000896036.1

#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: Aug 15, 2022

Support Center