G8839C

# **General Information**

| **Position** | **8839** | **Variant** | **m.8839G\>C** | **Locus** | **MT\-ATP6** | **Amino\-AcidChange** | **A105P** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **APOGEE2** | Pathogenic | **Pathogenicity** | Reported \[VUS] |

"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.8839G\>C** variant in MT\-ATP6 has been reported in 1 pedigree. To date, 3 carriers have been reported. Reported mutation loads ranged from 1\.3% to 88%, with a median of 31% overall; affected carriers showed mutation loads from 21% to 88%, with a median of 82\.5%; unaffected carriers showed mutation loads from 1\.3% to 40%, with a median of 15\.8%. In one affected carrier, a marked tissue\-specific difference was observed, with higher mutation loads in muscle (87%), urine (78%), and bone marrow (88%) than in blood (21%). In one unaffected carrier, a marked tissue\-specific difference was observed, with higher mutation loads in bone marrow (22%) than in blood (9\.5%). Similar tissue\-specific differences were observed in 1 additional carriers. The main clinical manifestations among affected carriers included nARP syndrome.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 8839 | m.8839G\>C | [G8839C\-F1](https://mitofam.com/doc/1759/) | Spain | NARP syndrome | 2 | 0 | 2013 | [24118886](https://pubmed.ncbi.nlm.nih.gov/24118886/) | Asymptomatic sister and mother had extractable low\-level mutation loads. |

# **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 | 8839 | m.8839G\>C | G8839C\-F1 | G8839C\-F1\-II1 | Fam | F | Y | Y | A | 57 | 21% | 87% | 78% | 88%(BM) | NARP syndrome |  |
| 2 | 8839 | m.8839G\>C | G8839C\-F1 | G8839C\-F1\-II2 | Fam | F | N | N | A | 46 | 9\.5% | / | / | 22%(BM) | Healthy. |  |
| 3 | 8839 | m.8839G\>C | G8839C\-F1 | G8839C\-F1\-I2 | Uninf | F | N | N | A | 79 | 1\.3% | / | / | 40%(BM) | Healthy. |  |

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