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SYCP2

Synonyms
SCP-2, SCP2, SPGF1
External resources
Summary
The synaptonemal complex is a proteinaceous structure that links homologous chromosomes during the prophase of meiosis. The protein encoded by this gene is a major component of the synaptonemal complex and may bind DNA at scaffold attachment regions. The encoded protein requires synaptonemal complex protein 3, but not 1, for inclusion in the synaptonemal complex.

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
30
Likely pathogenic
0
VUS
6,317
Likely benign
9,658
Benign
324

Patient phenotypes

Proportions of phenotypes among 30 patients carrying pathogenic or likely pathogenic variants on SYCP2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
50%
Abnormality of the nervous system
33.3%
Abnormality of the musculoskeletal system
30%
Abnormality of head or neck
23.3%
Abnormality of the cardiovascular system
13.3%
Abnormality of limbs
10%
Abnormality of the ear
10%
Abnormality of the integument
10%
Growth abnormality
10%
Abnormality of blood and blood-forming tissues
6.7%
Abnormality of prenatal development or birth
3.3%
Abnormality of the breast
3.3%
Abnormality of the digestive system
3.3%
Abnormality of the genitourinary system
3.3%
Abnormality of the immune system
3.3%
Neoplasm
3.3%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the endocrine system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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