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NM_000489.6(ATRX):c.3285G>T (p.Lys1095Asn) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 17, 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:
RCV002265962.1

Allele description [Variation Report for NM_000489.6(ATRX):c.3285G>T (p.Lys1095Asn)]

NM_000489.6(ATRX):c.3285G>T (p.Lys1095Asn)

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.3285G>T (p.Lys1095Asn)
HGVS:
  • NC_000023.11:g.77681971C>A
  • NG_008838.3:g.109299G>T
  • NM_000489.6:c.3285G>TMANE SELECT
  • NM_138270.5:c.3171G>T
  • NP_000480.3:p.Lys1095Asn
  • NP_612114.2:p.Lys1057Asn
  • LRG_1153:g.109299G>T
  • NC_000023.10:g.76937463C>A
  • NM_000489.4:c.3285G>T
  • NM_000489.5:c.3285G>T
Protein change:
K1057N
Links:
dbSNP: rs1308342676
NCBI 1000 Genomes Browser:
rs1308342676
Molecular consequence:
  • NM_000489.6:c.3285G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_138270.5:c.3171G>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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
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
SCV002548864New York Genome Center - CSER-NYCKidSeq
criteria provided, single submitter

(NYGC Assertion Criteria 2020)		Uncertain significance
(Sep 17, 2021) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From New York Genome Center - CSER-NYCKidSeq, SCV002548864.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Feb 28, 2024