SHMT2
serine hydroxymethyltransferase 2
Summary
This gene encodes the mitochondrial form of a pyridoxal phosphate-dependent enzyme that catalyzes the reversible reaction of serine and tetrahydrofolate to glycine and 5,10-methylene tetrahydrofolate. The encoded product is primarily responsible for glycine synthesis. The activity of the encoded protein has been suggested to be the primary source of intracellular glycine. The gene which encodes the cytosolic form of this enzyme is located on chromosome 17. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
Known Variants52 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs543672180 | 12:57,622,436 | C/G | — | — |
| rs28365862 | 12:57,623,363 | G/A | — | benign |
| rs28365863 | 12:57,623,519 | G/A | — | benign |
| rs2037284991 | 12:57,624,622 | A/G | — | uncertain significance |
| rs117173238 | 12:57,624,625 | C/T | — | uncertain significance |
| rs112251410 | 12:57,624,628 | G/T | — | uncertain significance |
| rs771968637 | 12:57,624,642 | C/A | — | likely benign |
| rs73338162 | 12:57,624,701 | C/T | — | benign |
| rs755645926 | 12:57,624,703 | G/C | — | uncertain significance |
| rs11557163 | 12:57,625,277 | G/T | — | uncertain significance |
| rs2548101671 | 12:57,625,313 | A/G | — | uncertain significance |
| rs373757480 | 12:57,625,490 | C/T | — | benign |
| rs781143002 | 12:57,625,503 | G/A | — | uncertain significance |
| rs375584473 | 12:57,625,545 | C/T | — | likely benign |
| rs748770680 | 12:57,625,570 | T/G | — | uncertain significance |
| rs770462073 | 12:57,625,576 | C/T | — | uncertain significance |
| rs527594157 | 12:57,625,611 | G/A | — | uncertain significance |
| rs1212558939 | 12:57,625,626 | C/G | — | uncertain significance |
| rs143872444 | 12:57,625,632 | G/A | — | uncertain significance |
| rs1426413125 | 12:57,625,653 | C/T | — | no classifications from unflagged records |
| rs74093117 | 12:57,625,950 | A/G | — | benign |
| rs11557166 | 12:57,626,018 | C/T | — | benign |
| rs769908186 | 12:57,626,038 | C/G | — | likely pathogenic |
| rs774360462 | 12:57,626,329 | C/T | — | uncertain significance |
| rs759605261 | 12:57,626,330 | G/A | — | uncertain significance |
| rs143192247 | 12:57,626,347 | C/T | — | uncertain significance |
| rs756952031 | 12:57,626,489 | G/A | — | likely benign |
| rs2037378254 | 12:57,626,498 | A/T | — | uncertain significance |
| rs2548103874 | 12:57,626,527 | C/T | — | uncertain significance |
| rs779456642 | 12:57,626,982 | C/T | — | uncertain significance |
| rs201477117 | 12:57,627,000 | G/A | — | uncertain significance |
| rs2229717 | 12:57,627,074 | T/G | — | benign |
| rs779404089 | 12:57,627,082 | G/T | — | uncertain significance |
| rs755497969 | 12:57,627,364 | C/T | — | uncertain significance |
| rs913349362 | 12:57,627,397 | C/T | — | uncertain significance |
| rs1452868845 | 12:57,627,450 | G/A | — | uncertain significance |
| rs773224457 | 12:57,627,532 | G/C | — | uncertain significance |
| rs763108760 | 12:57,627,540 | G/C | — | uncertain significance |
| rs766445638 | 12:57,627,541 | A/G | — | conflicting classifications of pathogenicity |
| rs2037432429 | 12:57,627,543 | A/G | — | likely pathogenic |
| rs369332082 | 12:57,627,591 | C/T | — | uncertain significance |
| rs751223752 | 12:57,627,675 | G/A | — | no classifications from unflagged records |
| rs34095989 | 12:57,627,717 | A/G | — | benign |
| rs759124152 | 12:57,627,806 | C/T | — | uncertain significance |
| rs2037448764 | 12:57,627,810 | A/C | — | uncertain significance |
| rs143597171 | 12:57,627,830 | C/T | — | uncertain significance |
| rs748588102 | 12:57,627,866 | A/G | — | uncertain significance |
| rs369976295 | 12:57,628,051 | G/C | — | uncertain significance |
| rs766431147 | 12:57,628,070 | C/T | — | uncertain significance |
| rs536394351 | 12:57,628,071 | G/A | — | likely benign |
| rs1261055782 | 12:57,628,091 | C/T | — | uncertain significance |
| rs2037465152 | 12:57,628,124 | C/G | — | likely pathogenic |
Gene information from NCBI Gene. Variant classifications from ClinVar.