NM_004586.3(RPS6KA3):c.1376A>T (p.Asp459Val) AND Coffin-Lowry syndrome

Clinical significance:Likely pathogenic (Last evaluated: May 20, 2021)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001528143.1

Allele description [Variation Report for NM_004586.3(RPS6KA3):c.1376A>T (p.Asp459Val)]

NM_004586.3(RPS6KA3):c.1376A>T (p.Asp459Val)

Gene:
RPS6KA3:ribosomal protein S6 kinase A3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp22.12
Genomic location:
Preferred name:
NM_004586.3(RPS6KA3):c.1376A>T (p.Asp459Val)
HGVS:
  • NC_000023.11:g.20169469T>A
  • NG_007488.1:g.102164A>T
  • NM_004586.3:c.1376A>TMANE SELECT
  • NP_004577.1:p.Asp459Val
  • NC_000023.10:g.20187587T>A
Protein change:
D459V
Molecular consequence:
  • NM_004586.3:c.1376A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Coffin-Lowry syndrome (CLS)
Synonyms:
Mental retardation with osteocartilaginous abnormalities; Coffin syndrome; COFFIN-LOWRY SYNDROME, MILD
Identifiers:
MONDO: MONDO:0010561; MedGen: C0265252; Orphanet: 192; OMIM: 303600

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001739354Clinical Genetics Laboratory,University Hospital Schleswig-Holsteinno assertion criteria providedLikely pathogenic
(May 20, 2021)
germlineclinical testing

Summary from all submissions

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

Details of each submission

From Clinical Genetics Laboratory,University Hospital Schleswig-Holstein, SCV001739354.1

#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: Jul 7, 2021

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