G5667A

# **General Information**

| **Position** | **5667** | **Variant** | **m.5667G\>A** | **Locus** | **MT\-TN** | **RNA** | **tRNA Asn** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **mitoTIP** | 44\.60% | **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.5667G\>A** variant in MT\-TN has been reported in 1 pedigree. To date, 1 carrier has been reported. Reported mutation loads ranged from 19% to 48%, with a median of 33\.5% overall; affected carriers showed mutation loads from 19% to 48%, with a median of 33\.5%. In one affected carrier, a marked tissue\-specific difference was observed, with higher mutation loads in extraocular muscle (48%) than in muscle (19%). The main clinical manifestations among affected carriers included CPEO.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 5667 | m.5667G\>A | G5667A\-F1 | Turkey | CPEO | ND | ND | 2019 | [30962064](https://pubmed.ncbi.nlm.nih.gov/30962064/) |  |

# **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 | 5667 | m.5667G\>A | G5667A\-F1 | G5667A\-F1\-P1 | Uninf | M | Y | Y | A | 14 | / | 19% | / | 48%(Extraocular muscle) | CPEO |  |

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