G12207A

# **General Information**

| **Position** | **12207** | **Variant** | **m.12207G\>A** | **Locus** | **MT\-TS2** | **RNA** | **tRNA Ser (AGY)** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **mitoTIP** | 76\.40% | **Pathogenicity** | Reported \[VUS] |

"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.12207G\>A** variant in MT\-TS2 has been reported in 2 pedigrees. To date, 8 carriers have been reported. Reported mutation loads ranged from 0\.3% to 92%, with a median of 30\.4% overall; affected carriers showed mutation loads from 0\.3% to 92%, with a median of 30\.4%. In one affected carrier, a marked tissue\-specific difference was observed, with higher mutation loads in blood (92%) than in hair (0\.3%). In one affected carrier, a marked tissue\-specific difference was observed, with higher mutation loads in urine (29\.4%) than in blood (13\.8%). Similar tissue\-specific differences were observed in 1 additional carriers. The main clinical manifestations among affected carriers included deafness, and intellectual disability, epilepsy, headache, MELAS, MERRF, and diabetes mellitus.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 12207 | m.12207G\>A | G12207A\-F1 | China | MELAS/MERRF | 0 | 0 | 2006 | [16950817](https://pubmed.ncbi.nlm.nih.gov/16950817/) |  |
| 2 | 12207 | m.12207G\>A | [G12207A\-F2](https://mitofam.com/doc/731/) | Japan | Deafness, epilepsy, and intellectual disability | 4 | 2 | 2023 | [36967720](https://pubmed.ncbi.nlm.nih.gov/36967720/) |  |

# **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 | 12207 | m.12207G\>A | G12207A\-F1 | G12207A\-F1\-Ⅱ1 | De novo | F | Y | Y | A | 12 | 92% | / | / | 0\.3% (H) | MELAS/MERRF |  |
| 2 | 12207 | m.12207G\>A | G12207A\-F2 | G12207A\-F2\-I4 | Uninf | F | N | Y | A | 40 | / | / | / | / | Headache, deafness, diabetes mellitus |  |
| 3 | 12207 | m.12207G\>A | G12207A\-F2 | G12207A\-F2\-II8 | Fam | F | N | N | A | ND | / | / | / | / | Healthy |  |
| 4 | 12207 | m.12207G\>A | G12207A\-F2 | G12207A\-F2\-II9 | Fam | F | N | Y | A | 13 | 13\.8% | / | 29\.4% | 22\.1% (BM) | Deafness, epilepsy, and intellectual disability |  |
| 5 | 12207 | m.12207G\>A | G12207A\-F2 | G12207A\-F2\-III6 | Fam | M | Y | Y | A | 10 | 31\.3% | / | 73\.9% | 52\.6% (BM) | Deafness, epilepsy, and intellectual disability |  |
| 6 | 12207 | m.12207G\>A | G12207A\-F2 | G12207A\-F2\-III7 | Fam | F | N | N | A | 13 | / | / | / | / | Healthy |  |
| 7 | 12207 | m.12207G\>A | G12207A\-F2 | G12207A\-F2\-III8 | Fam | M | N | N | A | 5 | / | / | / | / | Healthy |  |
| 8 | 12207 | m.12207G\>A | G12207A\-F2 | G12207A\-F2\-III9 | Fam | M | N | N | A | 3 | / | / | / | / | Healthy |  |

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