U.S. flag

An official website of the United States government

NM_014516.4(CNOT3):c.2209A>G (p.Lys737Glu) AND Intellectual developmental disorder with speech delay, autism, and dysmorphic facies

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jun 7, 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:
RCV003232958.2

Allele description [Variation Report for NM_014516.4(CNOT3):c.2209A>G (p.Lys737Glu)]

NM_014516.4(CNOT3):c.2209A>G (p.Lys737Glu)

Genes:
CNOT3:CCR4-NOT transcription complex subunit 3 [Gene - OMIM - HGNC]
LENG1:leukocyte receptor cluster member 1 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.42
Genomic location:
Preferred name:
NM_014516.4(CNOT3):c.2209A>G (p.Lys737Glu)
HGVS:
  • NC_000019.10:g.54155354A>G
  • NM_014516.4:c.2209A>GMANE SELECT
  • NM_024316.3:c.*367T>CMANE SELECT
  • NP_055331.1:p.Lys737Glu
  • NC_000019.9:g.54659092A>G
Protein change:
K737E
Molecular consequence:
  • NM_024316.3:c.*367T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_014516.4:c.2209A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies
Identifiers:
MONDO: MONDO:0032864; MedGen: C5231456; OMIM: 618672

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003929533Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg
criteria provided, single submitter

(Hauer et al. (Genet Med. 2018))		Likely pathogenic
(Jun 7, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature.

Hauer NN, Popp B, Schoeller E, Schuhmann S, Heath KE, Hisado-Oliva A, Klinger P, Kraus C, Trautmann U, Zenker M, Zweier C, Wiesener A, Abou Jamra R, Kunstmann E, Wieczorek D, Uebe S, Ferrazzi F, Büttner C, Ekici AB, Rauch A, Sticht H, Dörr HG, et al.

Genet Med. 2018 Jun;20(6):630-638. doi: 10.1038/gim.2017.159. Epub 2017 Oct 12.

PubMed [citation]
PMID:
29758562
PMCID:
PMC5993671

Details of each submission

From Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, SCV003929533.1

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

Description

This variant has been identified by standard clinical testing. de novo Selected ACMG criteria: Likely pathogenic (II):PP3;PP2;PM2;PS2

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 1, 2024