NM_000489.6(ATRX):c.4130A>G (p.Glu1377Gly) AND Alpha thalassemia-X-linked intellectual disability syndrome

Clinical significance:Benign (Last evaluated: Nov 30, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001510472.1

Allele description [Variation Report for NM_000489.6(ATRX):c.4130A>G (p.Glu1377Gly)]

NM_000489.6(ATRX):c.4130A>G (p.Glu1377Gly)

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.4130A>G (p.Glu1377Gly)
HGVS:
  • NC_000023.11:g.77656644T>C
  • NG_008838.3:g.134626A>G
  • NM_000489.6:c.4130A>GMANE SELECT
  • NM_138270.4:c.4016A>G
  • NM_138270.5:c.4016A>G
  • NP_000480.3:p.Glu1377Gly
  • NP_612114.2:p.Glu1339Gly
  • NP_612114.2:p.Glu1339Gly
  • LRG_1153:g.134626A>G
  • NC_000023.10:g.76912134T>C
  • NM_000489.3:c.4130A>G
Protein change:
E1339G
Links:
dbSNP: rs782553301
NCBI 1000 Genomes Browser:
rs782553301
Molecular consequence:
  • NM_000489.6:c.4130A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_138270.4:c.4016A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_138270.5:c.4016A>G - missense variant - [Sequence Ontology: SO:0001583]

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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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001717514Invitaecriteria provided, single submitter
Benign
(Nov 30, 2020)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV001717514.1

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

Last Updated: Nov 5, 2021

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