G15092A

# **General Information**

| **Position** | **15092** | **Variant** | **m.15092G\>A** | **Locus** | **MT\-CYB** | **Amino\-AcidChange** | **G116S** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **APOGEE2** | Likely\-pathogenic | **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.15092G\>A** variant in MT\-CYB has been reported in 1 pedigree. To date, 1 carrier has been reported. Reported mutation loads ranged from 45% to 97%, with a median of 87% overall; affected carriers showed mutation loads from 45% to 97%, with a median of 87%. In one affected carrier, a marked tissue\-specific difference was observed, with higher mutation loads in muscle (97%) than in blood (45%). The main clinical manifestations among affected carriers included vomiting, abdominal pain, aphasia, cortical blindness, dysphagia, hemiplegia, and seizures.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 15092 | m.15092G\>A | G15092A\-F1 | Albania | MELAS, stroke\-like episodes, status epilepticus | 0 | 0 | 2014 | [25125337](https://pubmed.ncbi.nlm.nih.gov/25125337/) |  |

# **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 | 15092 | m.15092G\>A | G15092A\-F1 | G15092A\-F1\-I1 | De novo | F | Y | Y | ND | 19 | 45% | 97% | 87% | / | Vomiting, abdominal pain, seizures, cortical blindness, hemiplegia, aphasia, dysphagia |  |

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