Classification
Category 5
polypyrimidine_tract
CMH MAF
38 /
6916 samples
(0.549%)
38 het.,
0 hom.
(100%)
38 /
13832 total alleles
(0.275%)
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
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 |
1043 / 24018 |
4.34% |
| America/Latino |
87 / 34418 |
0.253% |
| Ashkenazi Jewish |
1 / 10146 |
0.00986% |
| East Asian |
0 / 18868 |
0% |
| Finnish |
0 / 25794 |
0% |
| Non-Finnish |
34 / 124304 |
0.0274% |
| Other |
18 / 6446 |
0.279% |
| South Asian |
3 / 30782 |
0.00975% |
| Total MAF |
1186 / 274776 |
0.432% |
Export Variant