G3054A

# **General Information**

| **Position** | **3054** | **Variant** | **m.3054G\>A** | **Locus** | **MT\-RNR2** | **RNA** | **16S rRNA** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **mitoTIP** | N/A | **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.3054G\>A** variant in MT\-RNR2 has been reported in 1 pedigree. To date, 1 carrier has been reported. Reported mutation loads ranged from 12\.1%, with a median of 12\.1% overall; affected carriers showed mutation loads from 12\.1%, with a median of 12\.1%. The main clinical manifestations among affected carriers included pediatric septic shock, trichosporon asahii, acute lymphoid leukemia, and expired.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 3054 | m.3054G\>A | G3054A\-F1 | South Korea | Pediatric septic shock | 0 | 0 | 2021 | [33504965](https://pubmed.ncbi.nlm.nih.gov/33504965/) | Patient 3; Co\-reported m.6649C\>T and m.8606C\>T. |

# **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 | 3054 | m.3054G\>A | G3054A\-F1 | G3054A\-F1\-P3 | Uninf | ND | Y | Y | D | 6 | 12\.1% | / | / | / | Pediatric septic shock; acute lymphoid leukemia; Trichosporon asahii; expired | PMID 33504965 Table 1 patient 3 and Table 2 m.3054G\>A in PBMCs. Co\-reported m.6649C\>T and m.8606C\>T. |

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