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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:
1

Condition(s)

Name:
CNOT9-associated neurodevelopmental disorder
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002576392Institute of Human Genetics, University of Leipzig Medical Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Sep 28, 2022) 		de novoclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes11not providednot providednot providedclinical 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

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

PS2_MOD, PM1, PM2_SUP, PP2, PP3, PS3_SUP

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot provided1not provided1not provided

Last Updated: Aug 26, 2023