G3090A

# **General Information**

| **Position** | **3090** | **Variant** | **m.3090G\>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.3090G\>A** variant in MT\-RNR2 has been reported in 1 pedigree. To date, 1 carrier has been reported. Homoplasmy was reported in 1/1 carriers (100%), and 1/1 carriers (100%) were affected. In one affected carrier, the mutation was undetectable in blood (0%), fibroblasts (0%), hair (0%), and bone marrow (0%) but exceeded 20% in muscle (homoplasmy) and urine (50%). The main clinical manifestations among affected carriers included progressive myopathy since age 9, axial hypotonia, diffuse amyotrophy, elevated lactate, exercise intolerance, proximal weakness, and ragged\-red fibers.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 3090 | m.3090G\>A | G3090A\-F1 | France | Mitochondrial myopathy | 0 | 0 | 2007 | [17761147](https://pubmed.ncbi.nlm.nih.gov/17761147/) |  |

# **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 | 3090 | m.3090G\>A | G3090A\-F1 | G3090A\-F1\-P1 | De novo | F | Y | Y | A | 20 | 0 | Homo | about 50% | 0 (F); 0 (H); 0 (BM) | Progressive myopathy since age 9; exercise intolerance; diffuse amyotrophy; proximal weakness; axial hypotonia; elevated lactate; ragged\-red fibers |  |

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