A15662G

# **General Information**

| **Position** | **15662** | **Variant** | **m.15662A\>G** | **Locus** | **MT\-CYB** | **Amino\-AcidChange** | **I306V** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \+ | **APOGEE2** | 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.15662A\>G** variant in MT\-CYB has been reported in 1 pedigree. To date, 4 carriers have been reported. Reported mutation loads ranged from 75%, with a median of 75% overall; affected carriers showed mutation loads from 75%, with a median of 75%. The main clinical manifestations among affected carriers included leukoencephalopathy, complex mitochondriopathy, glomerulonephritis, hypertrabeculated left ventricle, and polyneuropathy.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 15662 | m.15662A\>G | [A15662G\-F1](https://mitofam.com/doc/1925/) | Austria | Leucencephalopathy, Glomerulonephritis, Hypertrabeculated Left Ventricle | 4 | 0 | 2000 | [10894993](https://pubmed.ncbi.nlm.nih.gov/10894993/) | Carrying T3398C,Carrying T4216C,Carrying G15812A |

# **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 | 15662 | m.15662A\>G | A15662G\-F1 | A15662G\-F1\-I1 | Uninf | F | N | N | A | 73 | \+ | / | / | / | Abnormal lactate stress test | A15662G detected qualitatively in leukocyte mtDNA; no numeric heteroplasmy reported. |
| 2 | 15662 | m.15662A\>G | A15662G\-F1 | A15662G\-F1\-II1 | Fam | F | N | N | A | 52 | \+ | / | / | / | Healthy | A15662G detected qualitatively in leukocyte mtDNA; no numeric heteroplasmy reported. |
| 3 | 15662 | m.15662A\>G | A15662G\-F1 | A15662G\-F1\-III1 | Fam | M | Y | Y | A | 33 | / | \>75% | / | / | Leukoencephalopathy; glomerulonephritis; hypertrabeculated left ventricle; polyneuropathy; complex mitochondriopathy | Co\-occurring T3398C, T4216C, G15812A. |
| 4 | 15662 | m.15662A\>G | A15662G\-F1 | A15662G\-F1\-III2 | Fam | M | N | N | A | 28 | \+ | / | / | / | Healthy | A15662G detected qualitatively in leukocyte mtDNA; no numeric heteroplasmy reported. |

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