A12265G

# **General Information**

| **Position** | **12265** | **Variant** | **m.12265A\>G** | **Locus** | **MT\-TS2** | **RNA** | **tRNA Ser (AGY)** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \- | **mitoTIP** | 18\.00% | **Pathogenicity** | Reported |

"Pathogenicity" status is derived from published literature or predictions from bioinformatics tools. Researchers and clinicians are cautioned that additional data and/or analysis may still be necessary to confirm the pathological significance of these variants. For more information, please see [Mitofam Info](https://mitofam.com/doc/385/).

# **Pedigree Information**

The **m.12265A\>G** variant in MT\-TS2 has been reported in 1 pedigree. To date, 9 carriers have been reported. Homoplasmy was reported in 3/9 carriers (33\.3%), and 6/9 carriers (66\.7%) were affected. The main clinical manifestations among affected carriers included dilated cardiomyopathy.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 12265 | m.12265A\>G | [A12265G\-F1](https://mitofam.com/doc/719/) | China | Dilated cardiomyopathy | 3 | 5 | 2025 | [40519988](https://pubmed.ncbi.nlm.nih.gov/40519988/) | Carrying G5821A |

# **Carrier Information**

| **No.** | **Position** | **Variant** | **Family ID** | **Carrier ID** | **Type (Fam/De novo/Uninf)** | **Gender (F/M)** | **Proband (Y/N)** | **Affected (Y/N)** | **Die/Alive(D/A)** | **Age** | **Blood Mutant Level** | **Muscle Mutant level** | **Urine Mutant level** | **Other Mutant level** | **Clinical Features** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 12265 | m.12265A\>G | A12265G\-F1 | A12265G\-F1\-I2 | Uninf | F | N | Y | D | ND | / | / | / | / | Dilated cardiomyopathy | Carrying G5821A |
| 2 | 12265 | m.12265A\>G | A12265G\-F1 | A12265G\-F1\-II1 | Fam | M | N | Y | D | ND | / | / | / | / | Dilated cardiomyopathy | Carrying G5821A |
| 3 | 12265 | m.12265A\>G | A12265G\-F1 | A12265G\-F1\-II4 | Fam | F | N | Y | D | ND | / | / | / | / | Dilated cardiomyopathy | Carrying G5821A |
| 4 | 12265 | m.12265A\>G | A12265G\-F1 | A12265G\-F1\-II6 | Fam | F | N | Y | A | 66 | Homo | / | / | / | Dilated Cardiomyopathy | Carrying G5821A |
| 5 | 12265 | m.12265A\>G | A12265G\-F1 | A12265G\-F1\-II8 | Fam | F | N | Y | A | 59 | Homo | / | / | / | Dilated Cardiomyopathy | Carrying G5821A |
| 6 | 12265 | m.12265A\>G | A12265G\-F1 | A12265G\-F1\-III2 | Fam | M | N | N | A | ND | / | / | / | / | Healthy | Carrying G5821A |
| 7 | 12265 | m.12265A\>G | A12265G\-F1 | A12265G\-F1\-III3 | Fam | F | N | N | A | ND | / | / | / | / | Healthy | Carrying G5821A |
| 8 | 12265 | m.12265A\>G | A12265G\-F1 | A12265G\-F1\-III4 | Fam | M | Y | Y | A | 44 | Homo | / | / | / | Dilated Cardiomyopathy | Carrying G5821A |
| 9 | 12265 | m.12265A\>G | A12265G\-F1 | A12265G\-F1\-III5 | Fam | F | N | N | A | ND | / | / | / | / | Healthy | Carrying G5821A |

For abbreviations and other usage instructions, please see [Mitofam Info](https://mitofam.com/doc/385/).