Classification
Category 5
curation
CMH MAF
102 /
11958 samples
(0.853%)
100 het.,
2 hom.
(98%)
104 /
23916 total alleles
(0.435%)
Genes
gene: MFN2
synonym(s): CMT2A, CMT2A2, CPRP1, HSG, MARF, MFN2, ENSG00000116688
NM_001127660.1
[intron]
hgvs_c: NM_001127660.1:c.2205-13C>A
splice impact: polypyrimidine_tract
protein sequence:
NP_001121132.1
NM_014874.3
[intron]
Reportable
hgvs_c: NM_014874.3:c.2205-13C>A
protein sequence:
NP_055689.1
dbSNP
rs76020240
GMAF = 0.01398
TOPMED_MAF = 0.01431893476044852
ClinVar
214638
clinvar_significance = Benign_Likely_benign
clinvar_disease = Hereditary motor and sensory neuropathy
clinvar_disease = Charcot-Marie-Tooth disease
Exome Variant Server
EVS
EVS MAF (European American/African American/All) = 0.000116,0.035633,0.012148
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
450 / 10394 |
4.33% |
| America/Latino |
24 / 11562 |
0.208% |
| East Asian |
0 / 8654 |
0% |
| Finnish |
0 / 6608 |
0% |
| Non-Finnish |
16 / 66714 |
0.024% |
| Other |
3 / 904 |
0.332% |
| South Asian |
0 / 16500 |
0% |
| Total MAF |
493 / 121336 |
0.406% |
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
1074 / 24956 |
4.3% |
| America/Latino |
91 / 35434 |
0.257% |
| Ashkenazi Jewish |
1 / 10360 |
0.00965% |
| East Asian |
0 / 19952 |
0% |
| Finnish |
0 / 25124 |
0% |
| Non-Finnish |
32 / 126816 |
0.0252% |
| Other |
18 / 7206 |
0.25% |
| South Asian |
3 / 30616 |
0.0098% |
| Korean |
0 / 3818 |
0% |
| Japanese |
0 / 152 |
0% |
| Other East Asian |
0 / 14424 |
0% |
| Bulgarian |
0 / 2668 |
0% |
| Estonian |
9 / 4830 |
0.186% |
| North-Western European |
8 / 48752 |
0.0164% |
| Southern European |
8 / 11548 |
0.0693% |
| Swedish |
2 / 26134 |
0.00765% |
| Other non-Finnish European |
5 / 32884 |
0.0152% |
| Total MAF |
1219 / 280464 |
0.435% |
curated_classification = 5
Export Variant