1:12071540-12071540 C > A

Classification

Category 5

polypyrimidine_tract

CMH MAF

38 / 6916 samples (0.549%)
38 het., 0 hom. (100%)
38 / 13832 total alleles (0.275%)

Genes

Consequences
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

Curation

Benign