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STAG2

Synonyms
HPE13, MKMS, NEDXCF, SA-2, SA2, SCC3B, bA517O1.1
External resources
Summary
The protein encoded by this gene is a subunit of the cohesin complex, which regulates the separation of sister chromatids during cell division. Targeted inactivation of this gene results in chromatid cohesion defects and aneuploidy, suggesting that genetic disruption of cohesin is a cause of aneuploidy in human cancer. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
66
Likely pathogenic
0
VUS
15,765
Likely benign
4,319
Benign
2,118

Patient phenotypes

Proportions of phenotypes among 62 patients carring pathogenic or likely pathogenic variants on STAG2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
46.8%
Abnormality of the musculoskeletal system
33.9%
Abnormality of head or neck
29%
Abnormality of the eye
29%
Abnormality of the ear
17.7%
Abnormality of limbs
16.1%
Abnormality of the cardiovascular system
16.1%
Abnormality of the integument
14.5%
Abnormality of the genitourinary system
12.9%
Growth abnormality
11.3%
Abnormality of the digestive system
8.1%
Neoplasm
8.1%
Abnormality of prenatal development or birth
6.5%
Abnormality of the endocrine system
6.5%
Abnormality of blood and blood-forming tissues
3.2%
Abnormality of the immune system
3.2%
Abnormality of the respiratory system
1.6%
Abnormality of the voice
1.6%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Constitutional symptom
0%

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