G7697A

# **General Information**

| **Position** | **7697** | **Variant** | **m.7697G\>A** | **Locus** | **MT\-CO2** | **Amino\-AcidChange** | **V38I** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \- | **APOGEE2** | Likely\-benign | **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.7697G\>A** variant in MT\-CO2 has been reported in 3 pedigrees. To date, 16 carriers have been reported. Mutation\-load data were not available. The main clinical manifestations among affected carriers included mitral regurgitation, AF, PAH, hypertension, hCM table row, aortic regurgitation, condition, outcome listed as Normal, and other features.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 7697 | m.7697G\>A | [G7697A\-F1](https://mitofam.com/doc/1646/) | China | Familial hypertrophic cardiomyopathy | 13 | 5 | 2009 | [19473338](https://pubmed.ncbi.nlm.nih.gov/19473338/) |  |
| 2 | 7697 | m.7697G\>A | [G7697A\-F2](https://mitofam.com/doc/1647/) | China | Familial hypertrophic cardiomyopathy | 5 | 4 | 2009 | [19473338](https://pubmed.ncbi.nlm.nih.gov/19473338/) |  |
| 3 | 7697 | m.7697G\>A | [G7697A\-F3](https://mitofam.com/doc/1648/) | China | Familial hypertrophic cardiomyopathy | 32 | 6 | 2009 | [19473338](https://pubmed.ncbi.nlm.nih.gov/19473338/) |  |

# **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 | 7697 | m.7697G\>A | G7697A\-F1 | G7697A\-F1\-II1 | Fam | F | N | Y | A | 72 | \+ | / | / | B ND | Mitral regurgitation; aortic regurgitation; tricuspid regurgitation; AF |  |
| 2 | 7697 | m.7697G\>A | G7697A\-F1 | G7697A\-F1\-II2 | Fam | F | N | Y | A | 58 | \+ | / | / | B ND | Mitral regurgitation; tricuspid regurgitation; PAH; AF |  |
| 3 | 7697 | m.7697G\>A | G7697A\-F1 | G7697A\-F1\-III1 | Fam | F | N | Y | A | 46 | \+ | / | / | B ND | Mitral regurgitation |  |
| 4 | 7697 | m.7697G\>A | G7697A\-F1 | G7697A\-F1\-III2 | Fam | M | N | Y | A | 43 | \+ | / | / | B ND | Mitral regurgitation |  |
| 5 | 7697 | m.7697G\>A | G7697A\-F1 | G7697A\-F1\-III3 | Fam | M | Y | Y | A | 53 | \+ | / | / | B ND | Mitral regurgitation; PAH; AF; CVA |  |
| 6 | 7697 | m.7697G\>A | G7697A\-F1 | G7697A\-F1\-IV1 | Fam | F | N | Y | A | 25 | \+ | / | / | B ND | Papillary muscle enlargement; malposition in LV |  |
| 7 | 7697 | m.7697G\>A | G7697A\-F2 | G7697A\-F2\-I1 | Uninf | F | N | Y | A | 74 | \+ | / | / | B ND | Mitral regurgitation; PAH; AF |  |
| 8 | 7697 | m.7697G\>A | G7697A\-F2 | G7697A\-F2\-II2 | Fam | M | N | Y | A | 49 | \+ | / | / | B ND | Mitral regurgitation; hypertension |  |
| 9 | 7697 | m.7697G\>A | G7697A\-F2 | G7697A\-F2\-II3 | Fam | F | Y | Y | A | 46 | \+ | / | / | B ND | Mitral regurgitation; PAH |  |
| 10 | 7697 | m.7697G\>A | G7697A\-F2 | G7697A\-F2\-III1 | Fam | F | N | Y | A | 18 | \+ | / | / | B ND | HCM table row; condition/outcome listed as Normal |  |
| 11 | 7697 | m.7697G\>A | G7697A\-F2 | G7697A\-F2\-II1 | Fam | M | N | N | A | ND | \+ | / | / | B ND | Unaffected family member; target\-positive normal by Table 4/Table 6 |  |
| 12 | 7697 | m.7697G\>A | G7697A\-F3 | G7697A\-F3\-II1 | Fam | F | N | Y | A | 70 | \+ | / | / | B ND | Mitral regurgitation; aortic regurgitation; AF |  |
| 13 | 7697 | m.7697G\>A | G7697A\-F3 | G7697A\-F3\-II2 | Fam | M | N | Y | A | 62 | \+ | / | / | B ND | Hypertension |  |
| 14 | 7697 | m.7697G\>A | G7697A\-F3 | G7697A\-F3\-III1 | Fam | F | Y | Y | A | 46 | \+ | / | / | B ND | Mitral regurgitation; hypertension |  |
| 15 | 7697 | m.7697G\>A | G7697A\-F3 | G7697A\-F3\-III2 | Fam | M | N | Y | A | 37 | \+ | / | / | B ND | Mitral regurgitation |  |
| 16 | 7697 | m.7697G\>A | G7697A\-F3 | G7697A\-F3\-IV1 | Fam | F | N | Y | A | 24 | \+ | / | / | B ND | HCM table row; condition/outcome listed as Normal |  |

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