A839G

# **General Information**

| **Position** | **839** | **Variant** | **m.839A\>G** | **Locus** | **MT\-RNR1** | **RNA** | **12S rRNA** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \- | **mitoTIP** | N/A | **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.839A\>G** variant in MT\-RNR1 has been reported in 5 pedigrees. To date, 5 carriers have been reported. Homoplasmy was reported in 5/5 carriers (100%), and 5/5 carriers (100%) were affected. The main clinical manifestations among affected carriers included PTA R, profound hearing loss, flat audiogram, 95 dB, 110 dB, 81 dB, 98 dB, L 105, and other features.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 839 | m.839A\>G | A839G\-F1 | China | five pedigrees with aminoglycoside\-induced and nonsyndromic hearing impairment | ND | ND | 2011 | [21205314](https://pubmed.ncbi.nlm.nih.gov/21205314/) | Family 21205314 |
| 2 | 839 | m.839A\>G | A839G\-F2 | China | Nonsyndromic or aminoglycoside\-induced hearing loss | ND | 0 | 2010 | [20100600](https://pubmed.ncbi.nlm.nih.gov/20100600/) |  |
| 3 | 839 | m.839A\>G | A839G\-F3 | China | Nonsyndromic or aminoglycoside\-induced hearing loss | ND | 0 | 2010 | [20100600](https://pubmed.ncbi.nlm.nih.gov/20100600/) |  |
| 4 | 839 | m.839A\>G | A839G\-F4 | China | Nonsyndromic or aminoglycoside\-induced hearing loss | ND | 0 | 2010 | [20100600](https://pubmed.ncbi.nlm.nih.gov/20100600/) |  |
| 5 | 839 | m.839A\>G | A839G\-F5 | China | Nonsyndromic or aminoglycoside\-induced hearing loss | ND | 0 | 2010 | [20100600](https://pubmed.ncbi.nlm.nih.gov/20100600/) |  |

# **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 | 839 | m.839A\>G | A839G\-F1 | A839G\-F1\-III1 | Fam | F | Y | Y | ND | 1 | Homo | / | / | / | PTA R/L 78/81 dB; severe | Original carrier ID: NB005\-III\-1; flat; two matrilineal relatives affected in pedigree but not individually mappable from text; aminoglycoside: Yes |
| 2 | 839 | m.839A\>G | A839G\-F2 | A839G\-F2\-III6 | Uninf | M | Y | Y | A | ND | Homo | / | / | / | PTA R/L 93/95 dB; flat audiogram; profound hearing loss | Original carrier ID: LS203\-III\-6; Aminoglycoside exposure reported; family history No |
| 3 | 839 | m.839A\>G | A839G\-F3 | A839G\-F3\-P1 | Uninf | F | Y | Y | A | ND | Homo | / | / | / | PTA R/L 92/98 dB; slope audiogram; profound hearing loss | Original carrier ID: LC116; Aminoglycoside exposure reported; family history No |
| 4 | 839 | m.839A\>G | A839G\-F4 | A839G\-F4\-P1 | Uninf | M | Y | Y | A | ND | Homo | / | / | / | PTA R/L 105/110 dB; flat audiogram; profound hearing loss | Original carrier ID: WC28; Aminoglycoside exposure reported; family history No |
| 5 | 839 | m.839A\>G | A839G\-F5 | A839G\-F5\-P1 | Uninf | M | Y | Y | A | ND | Homo | / | / | / | PTA R/L 90/95 dB; flat audiogram; profound hearing loss | Original carrier ID: HA11; Aminoglycoside exposure reported; family history No |

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