NC_000023.10:g.(20185970_20187287)_(20191368_20193188)del AND Coffin-Lowry syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 1, 2014
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:: RCV000170489.6

Allele description [Variation Report for NC_000023.10:g.(20185970_20187287)_(20191368_20193188)del]

NC_000023.10:g.(20185970_20187287)_(20191368_20193188)del

Gene:: RPS6KA3:ribosomal protein S6 kinase A3 [Gene - OMIM - HGNC]
Variant type:: Deletion
Cytogenetic location:: Xp22.12
Genomic location:: ChrX: 20185970 - 20193188 (on Assembly GRCh37)
Preferred name:: NC_000023.10:g.(20185970_20187287)_(20191368_20193188)del
HGVS:: NC_000023.10:g.(20185970_20187287)_(20191368_20193188)del
This HGVS expression did not pass validation
Nucleotide change:: 7.2-KB DEL
Links:: OMIM: 300075.0022

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000222921	OMIM	no assertion criteria provided	Pathogenic (Sep 1, 2014)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 5581017, 25044551

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000222921

OMIM

no assertion criteria provided

Pathogenic
(Sep 1, 2014)

germline

literature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

A new dominant gene mental retardation syndrome. Association with small stature, tapering fingers, characteristic facies, and possible hydrocephalus.

Lowry B, Miller JR, Fraser FC.

Am J Dis Child. 1971 Jun;121(6):496-500. No abstract available.

PubMed [citation]

PMID:: 5581017

The historical Coffin-Lowry syndrome family revisited: identification of two novel mutations of RPS6KA3 in three male patients.

Nishimoto HK, Ha K, Jones JR, Dwivedi A, Cho HM, Layman LC, Kim HG.

Am J Med Genet A. 2014 Sep;164A(9):2172-9. doi: 10.1002/ajmg.a.36488. Epub 2014 Jul 7.

PubMed [citation]

PMID:: 25044551

Details of each submission

From OMIM, SCV000222921.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

In cells derived from an affected member of the original family with Coffin-Lowry syndrome (CLS; 303600) reported by Lowry et al. (1971), Nishimoto et al. (2014) identified an in-frame deletion of exons 15 and 16 (r.1228_1443del216) in the RPS6KA3 gene, resulting in the deletion of 72 amino acids from 410 to 418 in the C-terminal kinase domain, predicting the loss of function of this domain. Microarray analysis indicated that the maximum size of the deletion was about 7.2 kb.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 13, 2022

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