1:6504654-6504654 T > G

Classification

Category 4

curation

CMH MAF

24 / 13144 samples (0.183%)
24 het., 0 hom. (100%)
24 / 26288 total alleles (0.0913%)

Genes

Consequences
gene: ESPN synonym(s): DFNB36, LP2654, ESPN, ENSG00000187017

NM_031475.2 [CDS] Reportable
hgvs_c: NM_031475.2:c.1104T>G
reference AA: F
variant AA: L
reference codon: ttT
variant codon: ttG
cDNA pos: 1272
CDS pos: 1104
translation impact: non_synonymous
protein sequence: NP_113663.2
AA pos: 368
hgvs_p: NP_113663.2:p.Phe368Leu
blosum: 0
SIFT: deleterious (0.0)
PolyPhen2: benign (0.007)

dbSNP

rs142638391
GMAF = 0.003195
TOPMED_MAF = 0.00393412334352701

Exome Variant Server

EVS
EVS MAF (European American/African American/All) = 0.000000,0.010213,0.003460

ExAC

ExAC
Ethnicity Count / Number MAF
African 126 / 10406 1.21%
America/Latino 6 / 11578 0.0518%
East Asian 0 / 8654 0%
Finnish 0 / 6614 0%
Non-Finnish 0 / 66722 0%
Other 0 / 906 0%
South Asian 0 / 16512 0%
Total MAF 132 / 121392 0.109%

gnomAD

gnomAD
Source: Genome / Exome

Ethnicity Count / Number MAF
African 331 / 24962 1.33%
America/Latino 27 / 35432 0.0762%
Ashkenazi Jewish 0 / 10370 0%
East Asian 0 / 19952 0%
Finnish 0 / 25122 0%
Non-Finnish 3 / 129184 0.00232%
Other 5 / 7226 0.0692%
South Asian 0 / 30616 0%
Korean 0 / 3818 0%
Japanese 0 / 152 0%
Other East Asian 0 / 14424 0%
Bulgarian 0 / 2670 0%
Estonian 0 / 4832 0%
North-Western European 2 / 50812 0.00394%
Southern European 0 / 11610 0%
Swedish 0 / 26132 0%
Other non-Finnish European 1 / 33128 0.00302%
Total MAF 366 / 282864 0.129%

curated_classification = 4

Export Variant

Curation

Likely Benign