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NM_000489.6(ATRX):c.3535G>A (p.Val1179Ile) AND Intellectual disability-hypotonic facies syndrome, X-linked, 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 29, 2018
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:
RCV000723307.1

Allele description [Variation Report for NM_000489.6(ATRX):c.3535G>A (p.Val1179Ile)]

NM_000489.6(ATRX):c.3535G>A (p.Val1179Ile)

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.3535G>A (p.Val1179Ile)
HGVS:
  • NC_000023.11:g.77681721C>T
  • NG_008838.3:g.109549G>A
  • NM_000489.6:c.3535G>AMANE SELECT
  • NM_138270.5:c.3421G>A
  • NP_000480.3:p.Val1179Ile
  • NP_612114.2:p.Val1141Ile
  • LRG_1153:g.109549G>A
  • NC_000023.10:g.76937213C>T
  • NM_000489.3:c.3535G>A
Protein change:
V1141I
Links:
dbSNP: rs1569538665
NCBI 1000 Genomes Browser:
rs1569538665
Molecular consequence:
  • NM_000489.6:c.3535G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_138270.5:c.3421G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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
SCV000854697Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
no assertion criteria provided
Uncertain significance
(May 29, 2018) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City, SCV000854697.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 5, 2023