NM_205768.3(ZBTB18):c.1207del (p.Arg403fs) AND Intellectual disability, autosomal dominant 22

Germline classification:: Likely pathogenic (2 submissions)
Last evaluated:: Jun 11, 2021
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:: RCV002227706.2

Allele description [Variation Report for NM_205768.3(ZBTB18):c.1207del (p.Arg403fs)]

NM_205768.3(ZBTB18):c.1207del (p.Arg403fs)

Gene:

ZBTB18:zinc finger and BTB domain containing 18 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

1q44

Genomic location:

Preferred name:

NM_205768.3(ZBTB18):c.1207del (p.Arg403fs)

HGVS:

NC_000001.11:g.244054981del
NG_033841.1:g.11043del
NG_033841.2:g.11492del
NM_001278196.2:c.1180del
NM_006352.5:c.1180delC
NM_205768.3:c.1207delMANE SELECT
NP_001265125.1:p.Arg394fs
NP_006343.2:p.Arg394Alafs
NP_006343.2:p.Arg394fs
NP_991331.1:p.Arg403fs
NC_000001.10:g.244218283del
NM_006352.4:c.1180del
NM_205768.2:c.1207delC
NM_205768.3:c.1207delCMANE SELECT

Protein change:

R394fs

Links:

dbSNP: rs2148557361

NCBI 1000 Genomes Browser:

rs2148557361

Molecular consequence:

NM_001278196.2:c.1180del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_006352.5:c.1180delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_205768.3:c.1207del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

Condition(s)

Name:: Intellectual disability, autosomal dominant 22 (MRD22)
Synonyms:: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 22
Identifiers:: MONDO: MONDO:0012869; MedGen: CN029689; OMIM: 612337

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002506789	New York Genome Center - CSER-NYCKidSeq	criteria provided, single submitter (NYGC Assertion Criteria 2020)	Likely pathogenic (Jun 11, 2021)	germline	clinical testing	Citation Link,
SCV003853322	Clinical Research Ward, Shanghai Children's Medical Center	no assertion criteria provided	Pathogenic	de novo	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002506789

New York Genome Center - CSER-NYCKidSeq

criteria provided, single submitter

(NYGC Assertion Criteria 2020)

Likely pathogenic
(Jun 11, 2021)

germline

clinical testing

Citation Link,

SCV003853322

Clinical Research Ward, Shanghai Children's Medical Center

no assertion criteria provided

Pathogenic

de novo

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	1	not provided	not provided	1	not provided	clinical testing

Details of each submission

From New York Genome Center - CSER-NYCKidSeq, SCV002506789.1

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

Description

The heterozygous frameshift variant c.1207delC, p.Arg403AlafsTer60 has not been reported in individuals with ZBTB18-related disorders. The variant is absent in the gnomAD v3.1.1 database, indicating a rare allele. While this variant is not anticipated to result in nonsense-mediated decay, it is expected to disrupt the last 70 amino acids of the ZBTB18 protein which contains Zinc finger region-C2H2-type 2 (partial), type 3, and type 4 domains. Based on the available evidence, the variant c.1207delC, p.Arg403AlafsTer60 in the ZBTB18 gene is classified as likely pathogenic.

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

From Clinical Research Ward, Shanghai Children's Medical Center, SCV003853322.1

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

Last Updated: Dec 24, 2023

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