1:228345567-228345567 C > T

Classification

Category 4

curation

CMH MAF

103 / 14969 samples (0.688%)
100 het., 3 hom. (97.1%)
106 / 29938 total alleles (0.354%)

Genes

Consequences
gene: GJC2 synonym(s): CX46.6, Cx47, GJA12, HLD2, LMPH1C, PMLDAR, SPG44, GJC2, ENSG00000198835

NM_020435.3 [CDS] Reportable
hgvs_c: NM_020435.3:c.108C>T
reference AA: I
variant AA: I
reference codon: atC
variant codon: atT
cDNA pos: 421
CDS pos: 108
translation impact: synonymous
protein sequence: NP_065168.2
AA pos: 36
hgvs_p: NP_065168.2:p.Ile36=
blosum: 4

dbSNP

rs75469429
GMAF = 0.01298
TOPMED_MAF = 0.01208110346585117

ClinVar

235758
clinvar_significance = Benign_Likely_benign
clinvar_disease = Spastic paraplegia

Exome Variant Server

EVS
EVS MAF (European American/African American/All) = 0.000000,0.034334,0.011617

ExAC

ExAC
Ethnicity Count / Number MAF
African 395 / 7746 5.1%
America/Latino 15 / 9292 0.161%
East Asian 0 / 7312 0%
Finnish 0 / 3512 0%
Non-Finnish 4 / 52568 0.00761%
Other 2 / 624 0.321%
South Asian 1 / 13512 0.0074%
Total MAF 417 / 94566 0.441%

gnomAD

gnomAD
Source: Genome / Exome

Ethnicity Count / Number MAF
African 985 / 24116 4.08%
America/Latino 69 / 35034 0.197%
Ashkenazi Jewish 1 / 10188 0.00982%
East Asian 0 / 19776 0%
Finnish 0 / 24388 0%
Non-Finnish 8 / 125504 0.00637%
Other 14 / 7100 0.197%
South Asian 4 / 30092 0.0133%
Korean 0 / 3816 0%
Japanese 0 / 108 0%
Other East Asian 0 / 14292 0%
Bulgarian 0 / 2474 0%
Estonian 0 / 4782 0%
North-Western European 3 / 49544 0.00606%
Southern European 4 / 11270 0.0355%
Swedish 0 / 25636 0%
Other non-Finnish European 1 / 31798 0.00314%
Total MAF 1081 / 276198 0.391%

curated_classification = 4

Export Variant

Curation

Likely Benign