NM_020732.3(ARID1B):c.3919C>T (p.Gln1307Ter) AND Coffin-Siris syndrome 1

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 9, 2012
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:: RCV000024207.3

Allele description

NM_020732.3(ARID1B):c.3919C>T (p.Gln1307Ter)

Gene:

ARID1B:AT-rich interaction domain 1B [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6q25.3

Genomic location:

Preferred name:

NM_020732.3(ARID1B):c.3919C>T (p.Gln1307Ter)

HGVS:

NC_000006.12:g.157196221C>T
NG_032093.2:g.423292C>T
NM_001346813.1:c.4039C>T
NM_020732.3:c.3919C>T
NP_001333742.1:p.Gln1347Ter
NP_065783.3:p.Gln1307Ter
NC_000006.11:g.157517355C>T

Protein change:

Q1307*; GLN1307TER

Links:

OMIM: 614556.0001; dbSNP: rs387907140

NCBI 1000 Genomes Browser:

rs387907140

Molecular consequence:

NM_020732.3:c.3919C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Coffin-Siris syndrome 1 (CSS1)
Synonyms:: Mental retardation, autosomal dominant 12
Identifiers:: MedGen: C3281201; Orphanet: 1465; OMIM: 135900

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
SCV000045498	OMIM	no assertion criteria provided	Pathogenic (Mar 9, 2012)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000045498

OMIM

no assertion criteria provided

Pathogenic
(Mar 9, 2012)

germline

literature only

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	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability.

Hoyer J, Ekici AB, Endele S, Popp B, Zweier C, Wiesener A, Wohlleber E, Dufke A, Rossier E, Petsch C, Zweier M, Göhring I, Zink AM, Rappold G, Schröck E, Wieczorek D, Riess O, Engels H, Rauch A, Reis A.

Am J Hum Genet. 2012 Mar 9;90(3):565-72. doi: 10.1016/j.ajhg.2012.02.007.

PubMed [citation]

PMID:: 22405089
PMCID:: PMC3309205

Details of each submission

From OMIM, SCV000045498.2

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

Description

In a 3.5-year-old German boy with Coffin-Siris syndrome-1 (CSS1; 135900), Hoyer et al. (2012) identified a de novo heterozygous 3919C-T transition in exon 16 of the ARID1B gene, resulting in a gln1307-to-ter (Q1307X) substitution. The patient had severe developmental delay, delayed motor development, hypotonia, and mild dysmorphic features, including prominent forehead, low-set, posteriorly rotated and abnormally shaped ears, downslanting palpebral fissures, thin upper lip, pointed teeth, and brachydactyly. He also had autistic features.

#	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

Last Updated: Mar 31, 2019

ClinVar

Relating variation to medicine