NM_024496.4(IRF2BPL):c.647C>T (p.Pro216Leu) AND Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures

Germline classification:: Likely benign (1 submission)
Last evaluated:: Sep 20, 2024
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:: RCV004725707.1

Allele description [Variation Report for NM_024496.4(IRF2BPL):c.647C>T (p.Pro216Leu)]

NM_024496.4(IRF2BPL):c.647C>T (p.Pro216Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

14q24.3

Genomic location:

Preferred name:

NM_024496.4(IRF2BPL):c.647C>T (p.Pro216Leu)

HGVS:

NC_000014.9:g.77027146G>A
NM_024496.4:c.647C>TMANE SELECT
NP_078772.1:p.Pro216Leu
NC_000014.8:g.77493489G>A
NM_024496.2:c.647C>T

Protein change:

P216L

Molecular consequence:

NM_024496.4:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005329065	3billion	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Sep 20, 2024)	germline	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

SCV005329065

3billion

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign
(Sep 20, 2024)

germline

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	germline	no	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Nothing to display

Details of each submission

From 3billion, SCV005329065.1

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

Description

The variant was identified in at least one patient who was diagnosed with a different variant in another gene and showed no symptoms related to the gene containing the variant in question.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 8, 2024

ClinVar

Relating variation to medicine