1:12069692-12069692 G > A

Classification

Category 4
CMH MAF 75 / 13144 samples (0.571%)
75 het., 0 hom. (100%)
75 / 26288 total alleles (0.285%)

gene: MFN2 synonym(s): CMT2A, CMT2A2, CPRP1, HSG, MARF, MFN2, ENSG00000116688

OMIM
OMIM:608507: MFN2 (Autosomal dominant inheritance,Autosomal recessive inheritance)
OMIM:609260: Charcot-Marie-Tooth disease, axonal, type 2A2A
OMIM:617087: Charcot-Marie-Tooth disease, axonal, type 2A2B
OMIM:601152: Hereditary motor and sensory neuropathy VIA

NM_014874.3 [CDS]
hgvs_c: NM_014874.3:c.2113G>A
reference AA: V
variant AA: I
reference codon: Gtc
variant codon: Atc
cDNA pos: 2566
CDS pos: 2113
translation impact: non_synonymous
protein sequence: NP_055689.1
AA pos: 705
hgvs_p: NP_055689.1:p.Val705Ile
blosum: 3
SIFT: tolerated (0.19)
PolyPhen2: benign (0.041)

rs142271930
GMAF = 0.001597
TOPMED_MAF = 0.00254045616717635

138217
clinvar_significance = Benign_Likely_benign
clinvar_disease = Charcot-Marie-Tooth disease

EVS
EVS MAF (European American/African American/All) = 0.003837,0.000454,0.002691

ExAC Finnish, (300 / 6612), 4.54%
gnomAD Finnish, (1112 / 25116), 4.43%