A4917G

# **General Information**

| **Position** | **4917** | **Variant** | **m.4917A\>G** | **Locus** | **MT\-ND2** | **Amino\-AcidChange** | **N150D** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **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.4917A\>G** variant in MT\-ND2 has been reported in 4 pedigrees. To date, 11 carriers have been reported. Homoplasmy was reported in 9/11 carriers (81\.8%), and 5/11 carriers (45\.5%) were affected. The main clinical manifestations among affected carriers included LHON, lHON with bilateral optic atrophy, and central scotoma.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 4917 | m.4917A\>G | [A4917G\-F1](https://mitofam.com/doc/1184/) | Belgium | LHON | 6 | 1 | 1994 | [7977345](https://pubmed.ncbi.nlm.nih.gov/7977345/) | Carring T4216C |
| 2 | 4917 | m.4917A\>G | A4917G\-F2 | Germany | LHON | ND | ND | 1994 | [7977345](https://pubmed.ncbi.nlm.nih.gov/7977345/) | Carring T4216C |
| 3 | 4917 | m.4917A\>G | A4917G\-F3 | India | LHON | ND | ND | 2001 | [11339587](https://pubmed.ncbi.nlm.nih.gov/11339587/) |  |
| 4 | 4917 | m.4917A\>G | A4917G\-F4 | Russia | LHON | ND | ND | 2005 | [16050984](https://pubmed.ncbi.nlm.nih.gov/16050984/) | Carring G3460A, T4216C |

# **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 | 4917 | m.4917A\>G | A4917G\-F1 | A4917G\-F1\-II1 | Fam | M | Y | Y | A | ND | Homo | / | / | / | LHON | Carring T4216C |
| 2 | 4917 | m.4917A\>G | A4917G\-F1 | A4917G\-F1\-II2 | Fam | M | N | N | A | ND | Homo | / | / | / | Healthy | Carring T4216C |
| 3 | 4917 | m.4917A\>G | A4917G\-F1 | A4917G\-F1\-II3 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy | Carring T4216C |
| 4 | 4917 | m.4917A\>G | A4917G\-F1 | A4917G\-F1\-II4 | Fam | M | N | N | A | ND | Homo | / | / | / | Healthy | Carring T4216C |
| 5 | 4917 | m.4917A\>G | A4917G\-F1 | A4917G\-F1\-II5 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy | Carring T4216C |
| 6 | 4917 | m.4917A\>G | A4917G\-F1 | A4917G\-F1\-II6 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy | Carring T4216C |
| 7 | 4917 | m.4917A\>G | A4917G\-F1 | A4917G\-F1\-II7 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy | Carring T4216C |
| 8 | 4917 | m.4917A\>G | A4917G\-F1 | A4917G\-F1\-II8 | Fam | M | N | Y | A | ND | Homo | / | / | / | LHON | Carring T4216C |
| 9 | 4917 | m.4917A\>G | A4917G\-F2 | A4917G\-F2\-P1 | Uninf | ND | Y | Y | A | ND | Homo | / | / | / | LHON | Carring T4216C |
| 10 | 4917 | m.4917A\>G | A4917G\-F3 | A4917G\-F3\-P1 | Uninf | M | Y | Y | A | 11y | / | / | / | / | LHON with bilateral optic atrophy, central scotoma |  |
| 11 | 4917 | m.4917A\>G | A4917G\-F4 | A4917G\-F4\-P1 | Uninf | ND | Y | Y | ND | ND | / | / | / | / | LHON | Carring G3460A, T4216C |

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