Developmental Brain Disorder Gene Database

Missense Gene

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Missense

SMARCC2

HGNC:11105 (protein-coding gene)

SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2

Unique Cases:
9
Disorders:
ID
Last Updated:
January 4, 2024

Gene Summary:

Gene Function
Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner (PubMed:11018012). Can stimulate the ATPase activity of the catalytic subunit of these complexes (PubMed:10078207). May be required for CoREST dependent repression... (Source: Uniprot)
Previous symbols
No previous symbols
Alias symbols
BAF170, Rsc8, CRACC2
Chromosomal Location
12q13.2
Genomic Coordinates
GRCh37:chr12:56556143-56583358
GRCh38:chr12:56162359-56189504
Associated Disorders
Intellectual Disability

Predictive Scores:

HI Score (Decipher)

20.29

pLI (gnomAD)

1.00

LOEUF (gnomAD)

0.12

Classifications from External Sources:

SFARI Score (SFARI)

1

DDG2P Classification (DDG2P)

Strong

ClinGen Classification (ClinGen)

Definitive1

GenCC Classification (GenCC)

Supportive1 Moderate1 Strong1 Definitive2

NCBI: Gene

Integrates information from a wide range of species. A record may include nomenclature, Reference Sequences (RefSeqs), maps, pathways, variations, phenotypes, and links to genome-, phenotype-, and locus-specific resources worldwide.

Gene Reviews

An international point-of-care resource for busy clinicians, provides clinically relevant and medically actionable information for inherited conditions in a standardized journal-style format, covering diagnosis, management, and genetic counseling for patients and their families.

DECIPHER

DECIPHER (DatabasE of genomiC varIation and Phenotype in Humans using Ensembl Resources) is an interactive web-based database which incorporates a suite of tools designed to aid the interpretation of genomic variants. DECIPHER enhances clinical diagnosis by retrieving information from a variety of bioinformatics resources relevant to the variant found in the patient.

SFARI

SFARI Gene is an evolving online database designed to permit quick entrée into the genetics of autism, and to help researchers track the ever-expanding genetic risk factors that emerge in the literature.

ClinGen

ClinGen is a National Institutes of Health (NIH)-funded resource dedicated to building an authoritative central resource that defines the clinical relevance of genes and variants for use in precision medicine and research.

GenCC

The GenCC DB provides information pertaining to the validity of gene-disease relationships, with a current focus on Mendelian diseases.

gnomAD

The Genome Aggregation Database (gnomAD) is a resource developed by an international coalition of investigators, with the goal of aggregating and harmonizing both exome and genome sequencing data from a wide variety of large-scale sequencing projects, and making summary data available for the wider scientific community.
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