NM_015100.4(POGZ):c.1810G>T (p.Glu604Ter) AND Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 6, 2017
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:: RCV000496149.2

Allele description [Variation Report for NM_015100.4(POGZ):c.1810G>T (p.Glu604Ter)]

NM_015100.4(POGZ):c.1810G>T (p.Glu604Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q21.3

Genomic location:

Preferred name:

NM_015100.4(POGZ):c.1810G>T (p.Glu604Ter)

HGVS:

NC_000001.11:g.151411741C>A
NG_046601.1:g.52725G>T
NM_001194937.2:c.1783G>T
NM_001194938.2:c.1624G>T
NM_015100.4:c.1810G>TMANE SELECT
NM_145796.4:c.1525G>T
NM_207171.2:c.1651G>T
NP_001181866.1:p.Glu595Ter
NP_001181867.1:p.Glu542Ter
NP_055915.2:p.Glu604Ter
NP_665739.3:p.Glu509Ter
NP_997054.1:p.Glu551Ter
NC_000001.10:g.151384217C>A
NM_015100.3:c.1810G>T

Protein change:

E509*

Links:

dbSNP: rs1135401798

NCBI 1000 Genomes Browser:

rs1135401798

Molecular consequence:

NM_001194937.2:c.1783G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001194938.2:c.1624G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_015100.4:c.1810G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_145796.4:c.1525G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_207171.2:c.1651G>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000586757	Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jan 6, 2017)	de novo	clinical testing	PubMed (2) [See all records that cite these PMIDs] 25741868, 28708303

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000586757

Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jan 6, 2017)

de novo

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

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

Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients.

Chérot E, Keren B, Dubourg C, Carré W, Fradin M, Lavillaureix A, Afenjar A, Burglen L, Whalen S, Charles P, Marey I, Heide S, Jacquette A, Heron D, Doummar D, Rodriguez D, Billette de Villemeur T, Moutard ML, Guët A, Xavier J, Périsse D, Cohen D, et al.

Clin Genet. 2018 Mar;93(3):567-576. doi: 10.1111/cge.13102. Epub 2017 Oct 4.

PubMed [citation]

PMID:: 28708303

Details of each submission

From Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris, SCV000586757.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (2)

Description

Intellectual disability, moderate; tall stature; epilepsy; morphological anomalies

#	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 23, 2022

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