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SMARCD2

Synonyms
BAF60B, CRACD2, PRO2451, Rsc6p, SGD2
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 has sequence similarity to the yeast Swp73 protein. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.

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
233
Likely pathogenic
0
VUS
5,503
Likely benign
865
Benign
0

Patient phenotypes

Proportions of phenotypes among 232 patients carrying pathogenic or likely pathogenic variants on SMARCD2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
40.1%
Abnormality of the musculoskeletal system
35.8%
Abnormality of the eye
33.6%
Abnormality of head or neck
25.4%
Abnormality of the integument
15.9%
Abnormality of limbs
13.8%
Abnormality of the ear
13.8%
Growth abnormality
13.8%
Abnormality of the cardiovascular system
13.4%
Abnormality of the digestive system
6.9%
Abnormality of the respiratory system
6.9%
Abnormality of the genitourinary system
5.2%
Abnormality of blood and blood-forming tissues
4.7%
Abnormality of prenatal development or birth
4.3%
Abnormality of the immune system
4.3%
Abnormality of the endocrine system
2.2%
Neoplasm
1.7%
Abnormal cellular phenotype
0.9%
Abnormality of the breast
0.4%
Constitutional symptom
0.4%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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