A12158G

# **General Information**

| **Position** | **12158** | **Variant** | **m.12158A\>G** | **Locus** | **MT\-TH** | **RNA** | **tRNA His** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **mitoTIP** | 77\.60% | **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.12158A\>G** variant in MT\-TH has been reported in 1 pedigree. To date, 5 carriers have been reported. Reported mutation loads ranged from 0% to 45\.5%, with a median of 3\.1% overall; affected carriers showed mutation loads from 45\.5%, with a median of 45\.5%; unaffected carriers showed mutation loads from 0% to 9\.1%, with a median of 1\.6%. The main clinical manifestations among affected carriers included MELAS.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 12158 | m.12158A\>G | [A12158G\-F1](https://mitofam.com/doc/582/) | South Korea | MELAS | 4 | 0 | 2022 | [35092007](https://pubmed.ncbi.nlm.nih.gov/35092007/) |  |

# **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 | 12158 | m.12158A\>G | A12158G\-F1 | A12158G\-F1\-I2 | Uninf | F | N | N | A | ND | 3\.1% | / | / | / | Healthy |  |
| 2 | 12158 | m.12158A\>G | A12158G\-F1 | A12158G\-F1\-II1 | Fam | F | N | N | A | ND | 0 | / | / | / | Healthy |  |
| 3 | 12158 | m.12158A\>G | A12158G\-F1 | A12158G\-F1\-II2 | Fam | F | N | N | A | ND | 0 | / | / | / | Healthy |  |
| 4 | 12158 | m.12158A\>G | A12158G\-F1 | A12158G\-F1\-II3 | Fam | F | N | N | A | ND | 9\.1% | / | / | / | Healthy |  |
| 5 | 12158 | m.12158A\>G | A12158G\-F1 | A12158G\-F1\-II4 | Fam | M | Y | Y | A | 23 | 45\.5% | / | / | / | MELAS |  |

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