NM_014927.5(CNKSR2):c.2185C>T (p.Arg729Ter) AND Intellectual disability, X-linked, syndromic, Houge type

This record was updated by the submitter. Please see the current version.

Germline classification:: Likely pathogenic (1 submission)
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:: RCV003228738.4

Allele description

NM_014927.5(CNKSR2):c.2185C>T (p.Arg729Ter)

Gene:

CNKSR2:connector enhancer of kinase suppressor of Ras 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp22.12

Genomic location:

Preferred name:

NM_014927.5(CNKSR2):c.2185C>T (p.Arg729Ter)

HGVS:

NC_000023.11:g.21609110C>T
NG_016266.1:g.239693C>T
NM_001168647.3:c.2095C>T
NM_001168648.3:c.2185C>T
NM_001168649.3:c.2038C>T
NM_001330770.2:c.2038C>T
NM_001330771.2:c.1948C>T
NM_001330772.2:c.1948C>T
NM_001330773.2:c.2095C>T
NM_014927.5:c.2185C>TMANE SELECT
NP_001162118.1:p.Arg699Ter
NP_001162119.1:p.Arg729Ter
NP_001162120.1:p.Arg680Ter
NP_001317699.1:p.Arg680Ter
NP_001317700.1:p.Arg650Ter
NP_001317701.1:p.Arg650Ter
NP_001317702.1:p.Arg699Ter
NP_055742.2:p.Arg729Ter
NC_000023.10:g.21627228C>T
NM_014927.3:c.2185C>T

Protein change:

R650*

Molecular consequence:

NM_001168647.3:c.2095C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001168648.3:c.2185C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001168649.3:c.2038C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001330770.2:c.2038C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001330771.2:c.1948C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001330772.2:c.1948C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001330773.2:c.2095C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_014927.5:c.2185C>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

Condition(s)

Name:: Intellectual disability, X-linked, syndromic, Houge type
Synonyms:: MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE; INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HOUGE TYPE
Identifiers:: MONDO: MONDO:0030909; MedGen: C4538788; OMIM: 301008

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003925559	HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP)	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic	de novo	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003925559

HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP)

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic

de novo

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP), SCV003925559.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided

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

Last Updated: Mar 16, 2025

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