G15242A

# **General Information**

| **Position** | **15242** | **Variant** | **m.15242G\>A** | **Locus** | **MT\-CYB** | **Amino\-AcidChange** | **G166Term** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **APOGEE2** | NA | **Pathogenicity** | Cfrm \[LP] |

"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.15242G\>A** variant in MT\-CYB has been reported in 1 pedigree. To date, 1 carrier has been reported. Reported mutation loads ranged from 0\.7% to 92%, with a median of 50\.5% overall; affected carriers showed mutation loads from 0\.7% to 92%, with a median of 50\.5%. In one affected carrier, a marked tissue\-specific difference was observed, with higher mutation loads in muscle (87%), rectus abdominis muscle (92%), uterus (61%), other tissue (4%), ovarian tissue (5%), other tissue (29%), fibroblasts (75%), other tissue (less than 40%), and h, mean 4\.6%, 8/22 (66%) than in blood (0\.7%). The main clinical manifestations among affected carriers included exercise intolerance, dizziness, memory loss, mood instability, psychosis, seizures, and stroke.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 15242 | m.15242G\>A | G15242A\-F1 | USA | Exercise intolerance, mood instability, seizures, psychosis, stroke, memory loss, dizziness | 0 | 0 | 2000 | [11047755](https://pubmed.ncbi.nlm.nih.gov/11047755/) |  |

# **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 | 15242 | m.15242G\>A | G15242A\-F1 | G15242A\-F1\-I1 | Uninf | F | Y | Y | A | 34 | 0\.7% | 87% | / | 92% (rectus abdominis muscle); 61% (uterus); 4\-5% (ovarian tissue); 29\-75% (F); \<0\.4\-66% (H, mean 4\.6%, 8/22\) | Exercise intolerance; mood instability; seizures; psychosis; stroke; memory loss; dizziness | Mother blood negative; sister trace \<0\.2% unresolved; origin uncertain. |

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