T5802C

# **General Information**

| **Position** | **5802** | **Variant** | **m.5802T\>C** | **Locus** | **MT\-TC** | **RNA** | **tRNA Cys** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \- | **mitoTIP** | 58\.90% | **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.5802T\>C** variant in MT\-TC has been reported in 3 pedigrees. To date, 20 carriers have been reported. Homoplasmy was reported in 20/20 carriers (100%), and 11/20 carriers (55%) were affected. The main clinical manifestations among affected carriers included obesity, profound hearing loss, moderate hearing loss, and severe hearing loss.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 5802 | m.5802T\>C | [T5802C\-F1](https://mitofam.com/doc/554/) | China | Obesity | 1 | 3 | 2020 | [31868206](https://pubmed.ncbi.nlm.nih.gov/31868206/) |  |
| 2 | 5802 | m.5802T\>C | [T5802C\-F2](https://mitofam.com/doc/555/) | China | Deaf1555 increased penetrance | 8 | 4 | 2008 | [18386806](https://pubmed.ncbi.nlm.nih.gov/18386806/) | Carrying A1555G |
| 3 | 5802 | m.5802T\>C | [T5802C\-F3](https://mitofam.com/doc/556/) | China | Deaf1555 increased penetrance | 7 | 1 | 2020 | [32400865](https://pubmed.ncbi.nlm.nih.gov/32400865/) | Carrying A1555G |

# **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 | 5802 | m.5802T\>C | T5802C\-F1 | T5802C\-F1\-I2 | uninf | F | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 2 | 5802 | m.5802T\>C | T5802C\-F1 | T5802C\-F1\-II2 | fam | F | N | Y | A | 38 | Homo | / | / | / | Obesity |  |
| 3 | 5802 | m.5802T\>C | T5802C\-F1 | T5802C\-F1\-II4 | fam | F | N | Y | A | 35 | Homo | / | / | / | Obesity |  |
| 4 | 5802 | m.5802T\>C | T5802C\-F1 | T5802C\-F1\-III1 | fam | M | Y | Y | A | 9 | Homo | / | / | / | Obesity |  |
| 5 | 5802 | m.5802T\>C | T5802C\-F1 | T5802C\-F1\-III2 | fam | M | N | Y | A | 6 | Homo | / | / | / | Obesity |  |
| 6 | 5802 | m.5802T\>C | T5802C\-F2 | T5802C\-F2\-I2 | uninf | F | N | N | A | ND | Homo | / | / | / | Healthy | Carrying A1555G |
| 7 | 5802 | m.5802T\>C | T5802C\-F2 | T5802C\-F2\-II2 | fam | F | N | Y | A | 20 | Homo | / | / | / | Moderate hearing loss | Carrying A1555G |
| 8 | 5802 | m.5802T\>C | T5802C\-F2 | T5802C\-F2\-II4 | fam | F | N | Y | A | 12 | Homo | / | / | / | Severe hearing loss | Carrying A1555G |
| 9 | 5802 | m.5802T\>C | T5802C\-F2 | T5802C\-F2\-II5 | fam | F | N | N | A | ND | Homo | / | / | / | Healthy | Carrying A1555G |
| 10 | 5802 | m.5802T\>C | T5802C\-F2 | T5802C\-F2\-II6 | fam | M | N | Y | A | 2 | Homo | / | / | / | Profound hearing loss | Carrying A1555G |
| 11 | 5802 | m.5802T\>C | T5802C\-F2 | T5802C\-F2\-II8 | fam | F | N | Y | A | 28 | Homo | / | / | / | Moderate hearing loss | Carrying A1555G |
| 12 | 5802 | m.5802T\>C | T5802C\-F2 | T5802C\-F2\-III1 | fam | M | Y | Y | A | 1 | Homo | / | / | / | Profound hearing loss | Carrying A1555G |
| 13 | 5802 | m.5802T\>C | T5802C\-F2 | T5802C\-F2\-III2 | fam | F | N | N | A | ND | Homo | / | / | / | Healthy | Carrying A1555G |
| 14 | 5802 | m.5802T\>C | T5802C\-F2 | T5802C\-F2\-III3 | fam | F | N | N | A | ND | Homo | / | / | / | Healthy | Carrying A1555G |
| 15 | 5802 | m.5802T\>C | T5802C\-F2 | T5802C\-F2\-III4 | fam | M | N | N | A | ND | Homo | / | / | / | Healthy | Carrying A1555G |
| 16 | 5802 | m.5802T\>C | T5802C\-F2 | T5802C\-F2\-III5 | fam | F | N | N | A | ND | Homo | / | / | / | Healthy | Carrying A1555G |
| 17 | 5802 | m.5802T\>C | T5802C\-F2 | T5802C\-F2\-III6 | fam | F | N | N | A | ND | Homo | / | / | / | Healthy | Carrying A1555G |
| 18 | 5802 | m.5802T\>C | T5802C\-F2 | T5802C\-F2\-III7 | fam | M | N | N | A | ND | Homo | / | / | / | Healthy | Carrying A1555G |
| 19 | 5802 | m.5802T\>C | T5802C\-F3 | T5802C\-F3\-III3 | fam | M | N | Y | A | 21 | Homo | / | / | / | Profound hearing loss | Carrying A1555G |
| 20 | 5802 | m.5802T\>C | T5802C\-F3 | T5802C\-F3\-III5 | fam | F | Y | Y | A | 25 | Homo | / | / | / | Profound hearing loss | Carrying A1555G |

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