AGPAT2
1-acylglycerol-3-phosphate O-acyltransferase 2
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. [provided by RefSeq, Jul 2008]
Known Variants165 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1037877364 | 9:139,567,632 | G/A | — | uncertain significance |
| rs138670030 | 9:139,567,669 | G/A | — | benign |
| rs10320 | 9:139,567,687 | G/A | — | benign |
| rs886063717 | 9:139,567,690 | T/G | — | uncertain significance |
| rs555467686 | 9:139,567,692 | C/T | — | uncertain significance |
| rs149296700 | 9:139,567,694 | G/A | — | likely benign |
| rs541153485 | 9:139,567,716 | G/A | — | uncertain significance |
| rs6951 | 9:139,567,762 | C/G | — | benign |
| rs886063718 | 9:139,567,786 | C/T | — | uncertain significance |
| rs1564288835 | 9:139,567,793 | G/A | — | uncertain significance |
| rs955418956 | 9:139,567,822 | G/A | — | uncertain significance |
| rs886063719 | 9:139,567,850 | G/A | — | uncertain significance |
| rs1039011011 | 9:139,567,927 | G/A | — | uncertain significance |
| rs56310643 | 9:139,567,965 | C/T | — | benign |
| rs117979028 | 9:139,567,968 | G/A | — | likely benign |
| rs573498539 | 9:139,567,972 | G/A | — | uncertain significance |
| rs190437134 | 9:139,567,974 | G/A | — | likely benign |
| rs886063720 | 9:139,567,987 | C/T | — | uncertain significance |
| rs182766891 | 9:139,567,993 | C/T | — | uncertain significance |
| rs567964604 | 9:139,568,003 | C/G | — | uncertain significance |
| rs777619886 | 9:139,568,040 | G/T | — | uncertain significance |
| rs4880119 | 9:139,568,047 | G/A | — | benign |
| rs144522710 | 9:139,568,102 | G/A | — | likely benign |
| rs112657922 | 9:139,568,125 | G/C | — | likely benign |
| rs200614462 | 9:139,568,156 | A/G | — | likely benign |
| rs769602973 | 9:139,568,159 | G/T | — | uncertain significance |
| rs749592042 | 9:139,568,170 | G/C | — | uncertain significance |
| rs375808894 | 9:139,568,194 | G/A | — | likely benign |
| rs1846044021 | 9:139,568,206 | A/G | — | uncertain significance |
| rs1208422773 | 9:139,568,213 | C/T | — | likely benign |
| rs773769888 | 9:139,568,214 | G/A | — | uncertain significance |
| rs368902934 | 9:139,568,221 | C/T | — | uncertain significance |
| rs759149037 | 9:139,568,228 | C/A | — | uncertain significance |
| rs142417583 | 9:139,568,232 | G/A | — | benign |
| rs528513856 | 9:139,568,238 | G/A | — | conflicting classifications of pathogenicity |
| rs17848858 | 9:139,568,253 | G/A | — | uncertain significance |
| rs151215253 | 9:139,568,255 | G/A | — | uncertain significance |
| rs761143874 | 9:139,568,258 | C/T | — | conflicting classifications of pathogenicity |
| rs146973799 | 9:139,568,279 | G/A | — | conflicting classifications of pathogenicity |
| rs147616533 | 9:139,568,280 | G/A | — | uncertain significance |
| rs1247427045 | 9:139,568,286 | A/G | — | uncertain significance |
| rs368090654 | 9:139,568,292 | C/T | — | conflicting classifications of pathogenicity |
| rs767338891 | 9:139,568,293 | G/A | — | uncertain significance |
| rs117434864 | 9:139,568,300 | G/A | — | likely benign |
| rs958545912 | 9:139,568,301 | G/A | — | uncertain significance |
| rs778853584 | 9:139,568,308 | C/T | — | likely benign |
| rs200288462 | 9:139,568,309 | G/A | — | conflicting classifications of pathogenicity |
| rs758501299 | 9:139,568,312 | C/T | — | likely benign |
| rs142207711 | 9:139,568,321 | G/A | — | conflicting classifications of pathogenicity |
| rs763693103 | 9:139,568,324 | C/T | — | likely benign |
| rs145975461 | 9:139,568,325 | G/A | — | likely benign |
| rs200656731 | 9:139,568,328 | G/C | missense variant | not provided |
| rs116951119 | 9:139,568,339 | G/A | — | benign |
| rs536777709 | 9:139,568,343 | G/T | — | uncertain significance |
| rs1255380257 | 9:139,568,356 | C/A | — | likely pathogenic |
| rs104894100 | 9:139,568,358 | A/G | missense variant | pathogenic |
| rs1249393698 | 9:139,568,363 | C/T | — | likely benign |
| rs1057517655 | 9:139,568,365 | G/A | stop gained | not provided |
| rs1131691791 | 9:139,568,381 | T/G | — | pathogenic |
| rs199964729 | 9:139,568,384 | G/C | — | likely benign |
| rs56393704 | 9:139,568,687 | C/T | — | benign |
| rs9411215 | 9:139,569,066 | G/A | — | benign |
| rs770744876 | 9:139,569,179 | G/A | — | likely benign |
| rs759476935 | 9:139,569,182 | G/A | — | uncertain significance |
| rs1057517654 | 9:139,569,185 | A/C | — | not provided |
| rs143244920 | 9:139,569,201 | T/A | — | conflicting classifications of pathogenicity |
| rs138994150 | 9:139,569,202 | T/A | stop gained | pathogenic |
| rs121908925 | 9:139,569,205 | T/A | stop gained | pathogenic |
| rs142248792 | 9:139,569,208 | T/C | — | conflicting classifications of pathogenicity |
| rs2490694593 | 9:139,569,227 | G/A | — | likely benign |
| rs746667575 | 9:139,569,231 | G/A | — | uncertain significance |
| rs372408400 | 9:139,569,244 | C/T | — | uncertain significance |
| rs116807569 | 9:139,569,261 | T/C | splice region variant | pathogenic |
| rs121908926 | 9:139,571,055 | G/T | stop gained | pathogenic |
| rs917659244 | 9:139,571,062 | G/T | — | uncertain significance |
| rs1564290861 | 9:139,571,068 | T/G | — | uncertain significance |
| rs139685001 | 9:139,571,081 | G/A | — | likely benign |
| rs748157664 | 9:139,571,111 | C/T | missense variant | pathogenic |
| rs1057518714 | 9:139,571,122 | C/T | stop gained | pathogenic |
| rs606231168 | 9:139,571,133 | C/G | — | pathogenic |
| rs763254660 | 9:139,571,134 | T/C | — | likely pathogenic |
| rs764555217 | 9:139,571,135 | G/A | — | uncertain significance |
| rs1187808090 | 9:139,571,139 | G/A | — | uncertain significance |
| rs376439157 | 9:139,571,149 | G/T | — | likely benign |
| rs933422777 | 9:139,571,412 | C/T | — | pathogenic |
| rs370441324 | 9:139,571,422 | G/A | — | uncertain significance |
| rs749471921 | 9:139,571,425 | C/T | — | uncertain significance |
| rs374919945 | 9:139,571,429 | C/A | — | uncertain significance |
| rs142993240 | 9:139,571,430 | G/A | — | likely benign |
| rs150530734 | 9:139,571,444 | G/T | — | uncertain significance |
| rs1230993149 | 9:139,571,450 | A/G | — | uncertain significance |
| rs886063721 | 9:139,571,452 | T/C | — | uncertain significance |
| rs372935354 | 9:139,571,490 | A/C | — | uncertain significance |
| rs149658120 | 9:139,571,494 | G/A | — | likely benign |
| rs145467496 | 9:139,571,497 | C/T | — | likely benign |
| rs775097208 | 9:139,571,498 | C/T | — | uncertain significance |
| rs797045222 | 9:139,571,499 | C/T | missense variant | pathogenic |
| rs537737741 | 9:139,571,508 | T/C | — | uncertain significance |
| rs139719956 | 9:139,571,521 | G/C | — | likely benign |
| rs1057522706 | 9:139,571,540 | T/G | — | uncertain significance |
Showing 100 of 165 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.