G12236A

# **General Information**

| **Position** | **12236** | **Variant** | **m.12236G\>A** | **Locus** | **MT\-TS2** | **RNA** | **tRNA Ser (AGY)** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \- | **mitoTIP** | 2\.20% | **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.12236G\>A** variant in MT\-TS2 has been reported in 1 pedigree. To date, 8 carriers have been reported. Homoplasmy was reported in 8/8 carriers (100%), and 6/8 carriers (75%) were affected. The main clinical manifestations among affected carriers included deafness.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 12236 | m.12236G\>A | [G12236A\-F1 ](https://mitofam.com/doc/733/)| France | Deafness | 2 | 5 | 2007 | [17637808](https://pubmed.ncbi.nlm.nih.gov/17637808/) |  |

# **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 | 12236 | m.12236G\>A | G12236A\-F1 | G12236A\-F1\-I2 | Uninf | F | N | Y | A | ND | Homo | / | / | / | Deafness |  |
| 2 | 12236 | m.12236G\>A | G12236A\-F1 | G12236A\-F1\-II2 | Fam | F | N | Y | A | ND | Homo | / | / | / | Deafness |  |
| 3 | 12236 | m.12236G\>A | G12236A\-F1 | G12236A\-F1\-II3 | Fam | F | N | Y | A | ND | Homo | / | / | / | Deafness |  |
| 4 | 12236 | m.12236G\>A | G12236A\-F1 | G12236A\-F1\-II4 | Fam | F | N | Y | A | ND | Homo | / | / | / | Deafness |  |
| 5 | 12236 | m.12236G\>A | G12236A\-F1 | G12236A\-F1\-II5 | Fam | M | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 6 | 12236 | m.12236G\>A | G12236A\-F1 | G12236A\-F1\-II6 | Fam | F | N | Y | A | ND | Homo | / | / | / | Deafness |  |
| 7 | 12236 | m.12236G\>A | G12236A\-F1 | G12236A\-F1\-III1 | Fam | F | Y | Y | A | ND | Homo | / | / | / | Deafness |  |
| 8 | 12236 | m.12236G\>A | G12236A\-F1 | G12236A\-F1\-III2 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy |  |

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