Home > Gene Browser > AGPAT2

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

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
2
Likely pathogenic
72
VUS
25,035
Likely benign
5,246
Benign
1,091

Patient phenotypes

Proportions of phenotypes among 74 patients carrying pathogenic or likely pathogenic variants on AGPAT2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
59.5%
Abnormality of the nervous system
56.8%
Abnormality of head or neck
47.3%
Abnormality of limbs
31.1%
Abnormality of the eye
25.7%
Abnormality of the ear
24.3%
Abnormality of the integument
24.3%
Growth abnormality
24.3%
Abnormality of the cardiovascular system
21.6%
Abnormality of the digestive system
17.6%
Abnormality of the genitourinary system
13.5%
Abnormality of the respiratory system
9.5%
Abnormality of prenatal development or birth
6.8%
Abnormality of the endocrine system
6.8%
Abnormality of the immune system
6.8%
Neoplasm
5.4%
Abnormality of blood and blood-forming tissues
4.1%
Abnormality of the breast
1.4%
Constitutional symptom
1.4%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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