NM_181552.4(CUX1):c.3500_3503del (p.Arg1167fs) AND Global developmental delay with or without impaired intellectual development

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Dec 19, 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:: RCV002468669.1

Allele description [Variation Report for NM_181552.4(CUX1):c.3500_3503del (p.Arg1167fs)]

NM_181552.4(CUX1):c.3500_3503del (p.Arg1167fs)

Gene:

CUX1:cut like homeobox 1 [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

7q22.1

Genomic location:

Preferred name:

NM_181552.4(CUX1):c.3500_3503del (p.Arg1167fs)

HGVS:

NC_000007.14:g.102234114GCCC[1]
NG_029476.2:g.423211GCCC[1]
NM_001202543.2:c.3533_3536del
NM_001202544.3:c.1207+38515_1207+38518del
NM_001202545.3:c.1117+38515_1117+38518del
NM_001202546.3:c.1138+38515_1138+38518del
NM_001913.5:c.1255+38515_1255+38518del
NM_181500.4:c.1249+38515_1249+38518del
NM_181552.4:c.3500_3503delMANE SELECT
NP_001189472.1:p.Arg1178fs
NP_853530.2:p.Arg1167fs
LRG_1123t1:c.3500_3503del
LRG_1123t2:c.1255+38515_1255+38518del
LRG_1123:g.423211GCCC[1]
LRG_1123p1:p.Arg1167fs
NC_000007.13:g.101877394GCCC[1]

Protein change:

R1167fs

Molecular consequence:

NM_001202543.2:c.3533_3536del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_181552.4:c.3500_3503del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001202544.3:c.1207+38515_1207+38518del - intron variant - [Sequence Ontology: SO:0001627]
NM_001202545.3:c.1117+38515_1117+38518del - intron variant - [Sequence Ontology: SO:0001627]
NM_001202546.3:c.1138+38515_1138+38518del - intron variant - [Sequence Ontology: SO:0001627]
NM_001913.5:c.1255+38515_1255+38518del - intron variant - [Sequence Ontology: SO:0001627]
NM_181500.4:c.1249+38515_1249+38518del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Global developmental delay with or without impaired intellectual development
Identifiers:: MONDO: MONDO:0032680; MedGen: C5193032; OMIM: 618330

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002764609	Institute of Human Genetics, University of Leipzig Medical Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Dec 19, 2022)	maternal	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

SCV002764609

Institute of Human Genetics, University of Leipzig Medical Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Dec 19, 2022)

maternal

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	maternal	yes	not provided	not provided	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, SCV002764609.1

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

Description

Criteria applied: PVS1, PM2_Supporting

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

Last Updated: Dec 24, 2022

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