16:31004164-31004164 A > G

Classification

Category 1

curation

CMH MAF

5 / 13144 samples (0.038%)
5 het., 0 hom. (100%)
5 / 26288 total alleles (0.019%)

Genes

Consequences
gene: STX1B synonym(s): STX1B1, STX1B2, STX1B, ENSG00000099365

NM_052874.3 [CDS] Reportable
hgvs_c: NM_052874.3:c.845T>C
reference AA: I
variant AA: T
reference codon: aTt
variant codon: aCt
cDNA pos: 957
CDS pos: 845
translation impact: non_synonymous
protein sequence: NP_443106.1
AA pos: 282
hgvs_p: NP_443106.1:p.Ile282Thr
blosum: -1
SIFT: deleterious (0.01)
PolyPhen2: benign (0.104)

dbSNP

rs763428520

ClinVar

265262
clinvar_significance = Uncertain_significance
clinvar_disease = Generalized epilepsy with febrile seizures plus

ExAC

ExAC
Ethnicity Count / Number MAF
African 0 / 9990 0%
America/Latino 0 / 11372 0%
East Asian 0 / 8550 0%
Finnish 0 / 6558 0%
Non-Finnish 1 / 65430 0.00153%
Other 0 / 884 0%
South Asian 0 / 16262 0%
Total MAF 1 / 119046 0.00084%

gnomAD

gnomAD
Source: Exome

Ethnicity Count / Number MAF
African 0 / 16142 0%
America/Latino 0 / 34504 0%
Ashkenazi Jewish 0 / 10016 0%
East Asian 0 / 18364 0%
Finnish 0 / 21644 0%
Non-Finnish 3 / 112616 0.00266%
Other 0 / 6102 0%
South Asian 0 / 30558 0%
Korean 0 / 3818 0%
Japanese 0 / 150 0%
Other East Asian 0 / 14396 0%
Bulgarian 0 / 2656 0%
Estonian 0 / 232 0%
North-Western European 2 / 41460 0.00482%
Southern European 0 / 11424 0%
Swedish 1 / 26116 0.00383%
Other non-Finnish European 0 / 30728 0%
Total MAF 3 / 249946 0.0012%

curated_classification = 1

Export Variant

Curation

Likely pathogenic