NM_015100.4(POGZ):c.2819_2826del (p.Leu940fs) AND Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 28, 2020
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:: RCV002468766.4

Allele description [Variation Report for NM_015100.4(POGZ):c.2819_2826del (p.Leu940fs)]

NM_015100.4(POGZ):c.2819_2826del (p.Leu940fs)

Gene:

POGZ:pogo transposable element derived with ZNF domain [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

1q21.3

Genomic location:

Preferred name:

NM_015100.4(POGZ):c.2819_2826del (p.Leu940fs)

HGVS:

NC_000001.11:g.151406209_151406216del
NG_046601.1:g.58250_58257del
NM_001194937.2:c.2792_2799del
NM_001194938.2:c.2633_2640del
NM_001410860.1:c.2840_2847delTGAATGTT
NM_015100.4:c.2819_2826delMANE SELECT
NM_145796.4:c.2534_2541del
NM_207171.2:c.2660_2667del
NP_001181866.1:p.Leu931fs
NP_001181867.1:p.Leu878fs
NP_001397789.1:p.Leu947Argfs
NP_055915.2:p.Leu940fs
NP_665739.3:p.Leu845fs
NP_997054.1:p.Leu887fs
NC_000001.10:g.151378685_151378692del

Protein change:

L845fs

Molecular consequence:

NM_001194937.2:c.2792_2799del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001194938.2:c.2633_2640del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001410860.1:c.2840_2847delTGAATGTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_015100.4:c.2819_2826del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_145796.4:c.2534_2541del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_207171.2:c.2660_2667del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

Condition(s)

Name:: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
Identifiers:: MONDO: MONDO:0014606; MedGen: C4225351; OMIM: 616364

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
SCV002764836	Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	criteria provided, single submitter (Classification criteria August 2017)	Pathogenic (Aug 28, 2020)	de novo	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002764836

Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

criteria provided, single submitter

(Classification criteria August 2017)

Pathogenic
(Aug 28, 2020)

de novo

clinical testing

Citation Link

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

Details of each submission

From Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München, SCV002764836.1

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

#	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: Jun 23, 2024

ClinVar

Relating variation to medicine