NM_005444.3(CNOT9):c.680G>A (p.Arg227His) AND CNOT9-associated neurodevelopmental disorder

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Sep 28, 2022
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:: RCV002286460.3

Allele description [Variation Report for NM_005444.3(CNOT9):c.680G>A (p.Arg227His)]

NM_005444.3(CNOT9):c.680G>A (p.Arg227His)

Gene:

CNOT9:CCR4-NOT transcription complex subunit 9 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q35

Genomic location:

Preferred name:

NM_005444.3(CNOT9):c.680G>A (p.Arg227His)

HGVS:

NC_000002.12:g.218592656G>A
NM_001271634.2:c.776G>A
NM_001271635.2:c.680G>A
NM_005444.3:c.680G>AMANE SELECT
NP_001258563.1:p.Arg259His
NP_001258564.1:p.Arg227His
NP_005435.1:p.Arg227His
NC_000002.11:g.219457379G>A
NR_073390.2:n.686G>A

Protein change:

R227H

Molecular consequence:

NM_001271634.2:c.776G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001271635.2:c.680G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_005444.3:c.680G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_073390.2:n.686G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

Condition(s)

Name:: CNOT9-associated neurodevelopmental disorder
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002576392	Institute of Human Genetics, University of Leipzig Medical Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Sep 28, 2022)	de novo	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002576392

Institute of Human Genetics, University of Leipzig Medical Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Sep 28, 2022)

de novo

clinical testing

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

Help

Summary from all submissions

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

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 Institute of Human Genetics, University of Leipzig Medical Center, SCV002576392.1

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

Description

PS2_MOD, PM1, PM2_SUP, PP2, PP3, PS3_SUP

#	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	1	not provided

Last Updated: Aug 26, 2023

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