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AGPAT2

Synonyms
1-AGPAT2, BSCL, BSCL1, LPAAB, LPAAT-beta
External resources
Summary
This gene encodes a member of the 1-acylglycerol-3-phosphate O-acyltransferase family. The protein is located within the endoplasmic reticulum membrane and converts lysophosphatidic acid to phosphatidic acid, the second step in de novo phospholipid biosynthesis. Mutations in this gene have been associated with congenital generalized lipodystrophy (CGL), or Berardinelli-Seip syndrome, a disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternate transcriptional splice variants, encoding different isoforms, have been characterized.

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
0
Likely pathogenic
31
VUS
7,915
Likely benign
1,820
Benign
714

Patient phenotypes

Proportions of phenotypes among 31 patients carring pathogenic or likely pathogenic variants on AGPAT2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
71%
Abnormality of head or neck
61.3%
Abnormality of the nervous system
61.3%
Abnormality of limbs
32.3%
Abnormality of the ear
32.3%
Abnormality of the integument
32.3%
Abnormality of the cardiovascular system
29%
Abnormality of the eye
29%
Growth abnormality
25.8%
Abnormality of the digestive system
19.4%
Abnormality of the genitourinary system
12.9%
Abnormality of the respiratory system
12.9%
Abnormality of the immune system
9.7%
Abnormality of prenatal development or birth
6.5%
Abnormality of blood and blood-forming tissues
3.2%
Abnormality of the breast
3.2%
Constitutional symptom
3.2%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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