G5821A

# **General Information**

| **Position** | **5821** | **Variant** | **m.5821G\>A** | **Locus** | **MT\-TC** | **RNA** | **tRNA Cys** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \- | **mitoTIP** | 20\.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.5821G\>A** variant in MT\-TC has been reported in 4 pedigrees. To date, 29 carriers have been reported. Homoplasmy was reported in 29/29 carriers (100%), and 11/29 carriers (37\.9%) were affected. The main clinical manifestations among affected carriers included hypertension and intrahepatic cholestasis.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 5821 | m.5821G\>A | [G5821A\-F1 ](https://mitofam.com/doc/546/)| China | Hypertension | 1 | 3 | 2017 | [28259969](https://pubmed.ncbi.nlm.nih.gov/28259969/) | Carrying homo A4401G |
| 2 | 5821 | m.5821G\>A |[ G5821A\-F2](https://mitofam.com/doc/547/) | China | Intrahepatic cholestasis | 0 | 1 | 2012 | [https://kns.cnki.net/KCMS/detail/detail.aspx?dbcode\=CJFD\&filename\=DDKZ201204002\&imgcode\=1731](https://kns.cnki.net/KCMS/detail/detail.aspx?dbcode=CJFD&filename=DDKZ201204002&imgcode=1731) |  |
| 3 | 5821 | m.5821G\>A | [G5821A\-F3](https://mitofam.com/doc/548/) | China | Hypertension | 2 | 1 | 2014 | [https://www.chinagene.cn/CN/10\.3724/SP.J.1005\.2014\.0127](https://www.chinagene.cn/CN/10.3724/SP.J.1005.2014.0127) |  |
| 4 | 5821 | m.5821G\>A | [G5821A\-F4 ](https://mitofam.com/doc/549/)| China | Hypertension | 14 | 3 | 2014 | [https://www.chinagene.cn/CN/10\.3724/SP.J.1005\.2014\.0127](https://www.chinagene.cn/CN/10.3724/SP.J.1005.2014.0127) |  |

# **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 | 5821 | m.5821G\>A | G5821A\-F1 | G5821A\-F1\-I2 | uninf | F | N | Y | A | 83 | Homo | / | / | / | Hypertension | Carrying homo A4401G |
| 2 | 5821 | m.5821G\>A | G5821A\-F1 | G5821A\-F1\-II1 | fam | M | N | N | A | ND | Homo | / | / | / | Healthy | Carrying homo A4401G |
| 3 | 5821 | m.5821G\>A | G5821A\-F1 | G5821A\-F1\-II3 | fam | M | N | Y | A | 57 | Homo | / | / | / | Hypertension | Carrying homo A4401G |
| 4 | 5821 | m.5821G\>A | G5821A\-F1 | G5821A\-F1\-II6 | fam | F | Y | Y | A | 59 | Homo | / | / | / | Hypertension | Carrying homo A4401G |
| 5 | 5821 | m.5821G\>A | G5821A\-F1 | G5821A\-F1\-III4 | fam | F | N | Y | A | 35 | Homo | / | / | / | Hypertension | Carrying homo A4401G |
| 6 | 5821 | m.5821G\>A | G5821A\-F2 | G5821A\-F2\-I2 | uninf | F | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 7 | 5821 | m.5821G\>A | G5821A\-F2 | G5821A\-F2\-II1 | fam | M | Y | Y | D | 1 | Homo | / | / | / | Intrahepatic cholestasis |  |
| 8 | 5821 | m.5821G\>A | G5821A\-F3 | G5821A\-F3\-I2 | uninf | F | N | N | D | ND | Homo | / | / | / | Healthy |  |
| 9 | 5821 | m.5821G\>A | G5821A\-F3 | G5821A\-F3\-II1 | fam | M | N | N | D | ND | Homo | / | / | / | Healthy |  |
| 10 | 5821 | m.5821G\>A | G5821A\-F3 | G5821A\-F3\-II3 | fam | M | N | Y | D | ND | Homo | / | / | / | Hypertension |  |
| 11 | 5821 | m.5821G\>A | G5821A\-F3 | G5821A\-F3\-II5 | fam | M | Y | Y | D | 81 | Homo | / | / | / | Hypertension |  |
| 12 | 5821 | m.5821G\>A | G5821A\-F4 | G5821A\-F4\-I2 | uninf | F | N | Y | A | 80 | Homo | / | / | / | Hypertension |  |
| 13 | 5821 | m.5821G\>A | G5821A\-F4 | G5821A\-F4\-II2 | fam | F | N | Y | A | 57 | Homo | / | / | / | Hypertension |  |
| 14 | 5821 | m.5821G\>A | G5821A\-F4 | G5821A\-F4\-II3 | fam | M | N | Y | A | 61 | Homo | / | / | / | Hypertension |  |
| 15 | 5821 | m.5821G\>A | G5821A\-F4 | G5821A\-F4\-II5 | fam | M | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 16 | 5821 | m.5821G\>A | G5821A\-F4 | G5821A\-F4\-II7 | fam | M | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 17 | 5821 | m.5821G\>A | G5821A\-F4 | G5821A\-F4\-II9 | fam | M | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 18 | 5821 | m.5821G\>A | G5821A\-F4 | G5821A\-F4\-II12 | fam | F | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 19 | 5821 | m.5821G\>A | G5821A\-F4 | G5821A\-F4\-II14 | fam | F | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 20 | 5821 | m.5821G\>A | G5821A\-F4 | G5821A\-F4\-III1 | fam | M | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 21 | 5821 | m.5821G\>A | G5821A\-F4 | G5821A\-F4\-III4 | fam | F | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 22 | 5821 | m.5821G\>A | G5821A\-F4 | G5821A\-F4\-III5 | fam | M | Y | Y | A | 37 | Homo | / | / | / | Hypertension |  |
| 23 | 5821 | m.5821G\>A | G5821A\-F4 | G5821A\-F4\-III19 | fam | M | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 24 | 5821 | m.5821G\>A | G5821A\-F4 | G5821A\-F4\-III20 | fam | M | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 25 | 5821 | m.5821G\>A | G5821A\-F4 | G5821A\-F4\-III21 | fam | F | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 26 | 5821 | m.5821G\>A | G5821A\-F4 | G5821A\-F4\-III22 | fam | F | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 27 | 5821 | m.5821G\>A | G5821A\-F4 | G5821A\-F4\-III23 | fam | F | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 28 | 5821 | m.5821G\>A | G5821A\-F4 | G5821A\-F4\-III24 | fam | F | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 29 | 5821 | m.5821G\>A | G5821A\-F4 | G5821A\-F4\-IV2 | fam | F | N | N | A | ND | Homo | / | / | / | Healthy |  |

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