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NM_004586.3(RPS6KA3):c.2101-2A>G AND Coffin-Lowry syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 20, 2023
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:
RCV003223525.2

Allele description [Variation Report for NM_004586.3(RPS6KA3):c.2101-2A>G]

NM_004586.3(RPS6KA3):c.2101-2A>G

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.2101-2A>G
HGVS:
  • NC_000023.11:g.20155522T>C
  • NG_007488.1:g.116111A>G
  • NM_004586.3:c.2101-2A>GMANE SELECT
  • NC_000023.10:g.20173640T>C
  • NM_004586.2:c.2101-2A>G
Molecular consequence:
  • NM_004586.3:c.2101-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]

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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003919035Duke University Health System Sequencing Clinic, Duke University Health System
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Apr 20, 2023) 		de novoresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedresearch

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 Duke University Health System Sequencing Clinic, Duke University Health System, SCV003919035.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 10, 2023