NM_024496.4(IRF2BPL):c.521_527del (p.Pro174fs) AND Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures

Germline classification:: 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:: RCV002574759.2

Allele description [Variation Report for NM_024496.4(IRF2BPL):c.521_527del (p.Pro174fs)]

NM_024496.4(IRF2BPL):c.521_527del (p.Pro174fs)

Gene:

IRF2BPL:interferon regulatory factor 2 binding protein like [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

14q24.3

Genomic location:

Preferred name:

NM_024496.4(IRF2BPL):c.521_527del (p.Pro174fs)

HGVS:

NC_000014.9:g.77027269_77027275del
NM_024496.4:c.521_527delMANE SELECT
NP_078772.1:p.Pro174fs
NC_000014.8:g.77493612_77493618del

Protein change:

P174fs

Molecular consequence:

NM_024496.4:c.521_527del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

Condition(s)

Name:: Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
Identifiers:: MONDO: MONDO:0060759; MedGen: C4748127; OMIM: 618088

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002822867	Centre for Inherited Metabolic Diseases, Karolinska University Hospital	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic	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

SCV002822867

Centre for Inherited Metabolic Diseases, Karolinska University Hospital

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic

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	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 Centre for Inherited Metabolic Diseases, Karolinska University Hospital, SCV002822867.1

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

#	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: Apr 30, 2023

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