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SMARCC1

Synonyms
BAF155, CRACC1, Rsc8, SRG3, SWI3
External resources
Summary
The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI and contains a predicted leucine zipper motif typical of many transcription factors.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
14
Likely pathogenic
0
VUS
1,942
Likely benign
4,105
Benign
2,855

Patient phenotypes

Proportions of phenotypes among 11 patients carrying pathogenic or likely pathogenic variants on SMARCC1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
45.5%
Abnormality of head or neck
36.4%
Abnormality of limbs
27.3%
Abnormality of the cardiovascular system
27.3%
Abnormality of the eye
27.3%
Abnormality of the musculoskeletal system
27.3%
Abnormality of prenatal development or birth
18.2%
Abnormality of the digestive system
18.2%
Abnormality of the respiratory system
18.2%
Abnormality of the ear
9.1%
Abnormality of the endocrine system
9.1%
Abnormality of the immune system
9.1%
Constitutional symptom
9.1%
Growth abnormality
9.1%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the genitourinary system
0%
Abnormality of the integument
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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