NM_205768.3(ZBTB18):c.1390C>T (p.Arg464Cys) AND Intellectual disability, autosomal dominant 22

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Apr 5, 2022
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000509048.4

Allele description [Variation Report for NM_205768.3(ZBTB18):c.1390C>T (p.Arg464Cys)]

NM_205768.3(ZBTB18):c.1390C>T (p.Arg464Cys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q44

Genomic location:

Preferred name:

NM_205768.3(ZBTB18):c.1390C>T (p.Arg464Cys)

HGVS:

NC_000001.11:g.244055164C>T
NG_033841.1:g.11226C>T
NG_033841.2:g.11675C>T
NM_001278196.2:c.1363C>T
NM_006352.5:c.1363C>T
NM_205768.3:c.1390C>TMANE SELECT
NP_001265125.1:p.Arg455Cys
NP_006343.2:p.Arg455Cys
NP_006343.2:p.Arg455Cys
NP_991331.1:p.Arg464Cys
NP_991331.1:p.Arg464Cys
NC_000001.10:g.244218466C>T
NM_006352.4:c.1363C>T
NM_205768.2:c.1390C>T

Protein change:

R455C; ARG464CYS

Links:

OMIM: 608433.0004; dbSNP: rs750922282

NCBI 1000 Genomes Browser:

rs750922282

Molecular consequence:

NM_001278196.2:c.1363C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_006352.5:c.1363C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_205768.3:c.1390C>T - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000606828	OMIM	no assertion criteria provided	Pathogenic (Apr 5, 2022)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV002104288	Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	no assertion criteria provided	Pathogenic	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000606828

OMIM

no assertion criteria provided

Pathogenic
(Apr 5, 2022)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

SCV002104288

Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India

no assertion criteria provided

Pathogenic

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features.

Cohen JS, Srivastava S, Farwell Hagman KD, Shinde DN, Huether R, Darcy D, Wallerstein R, Houge G, Berland S, Monaghan KG, Poretti A, Wilson AL, Chung WK, Fatemi A.

Clin Genet. 2017 May;91(5):697-707. doi: 10.1111/cge.12861. Epub 2016 Oct 10.

PubMed [citation]

PMID:: 27598823

Details of each submission

From OMIM, SCV000606828.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a 37-year-old man (patient 4) with autosomal dominant intellectual developmental disorder-22 (MRD22; 612337), Cohen et al. (2017) identified a de novo heterozygous c.1390C-T transition (c.1390C-T, NM_205768.2) in the ZBTB18 gene, resulting in an arg464-to-cys (R464C) substitution at a conserved residue in the third zinc finger domain. The mutation, which was found by whole-exome sequencing, was not found in the ExAC database. The mutation was classified as likely pathogenic based on American College of Medical Genetics (ACMG) guidelines. Functional studies of the variant and studies of patient cells were not performed.

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

From Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India, SCV002104288.1

#	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	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 8, 2024

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