SCN5A Variant A1148S
Summary of observed carriers, functional annotations, and structural context for SCN5A A1148S. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT3 penetrance
2%
0/11 effective observations
Estimated BrS1 penetrance
5%
0/11 effective observations
Total carriers
1
0 BrS1 · 0 LQT3 · 1 unaffected
Variant features alone are equivalent to phenotyping 0 individuals for Brugada syndrome and 0 individuals for LQT3.
In silico predictors
| PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
|---|---|---|---|---|---|
| -0.66 | 0.312 | -0.22 | 0.381 | 0 | 0 |
PROVEAN scores below -2 suggest deleterious impact. REVEL scores above 0.5–0.75 are often interpreted as likely pathogenic. PolyPhen-2 scores above 0.85 are typically pathogenic. Penetrance density summarises neighbouring residue risk (Kroncke et al. 2019).
Reported carrier data
| Source | Year | Carriers | Unaffected | LQT3 | BrS1 | Other | Other Disease |
|---|---|---|---|---|---|---|---|
| Literature, cohort, and gnomAD | – | 1 | 1 | 0 | 0 | – | |
| Variant features alone | – | 15 | 15 | 0 | 0 | – | – |
Totals may differ from individual publications due to duplicate patients removed during curation.
Nearby variants
Neighbouring residues within 15 Ångström provide structural context. Variants listed in the right-most column have been observed clinically or in gnomAD.
| Neighbour residue | Distance (Å) | Observed variants |
|---|---|---|
| 1133 | 15 | |
| 1134 | 14 | D1134N, D1134E, D1134E, |
| 1135 | 14 | S1135I |
| 1136 | 13 | C1136Y, |
| 1137 | 13 | |
| 1138 | 12 | |
| 1139 | 11 | |
| 1140 | 11 | S1140T, |
| 1141 | 10 | |
| 1142 | 9 | |
| 1143 | 8 | |
| 1144 | 8 | |
| 1145 | 7 | |
| 1146 | 5 | |
| 1147 | 4 | T1147I, T1147N, T1147S, T1147S, |
| 1148 | 0 | A1148S, A1148T, |
| 1149 | 4 | |
| 1150 | 5 | |
| 1151 | 7 | |
| 1152 | 8 | E1152X, |
| 1153 | 8 | Q1153H, Q1153H, |
| 1154 | 9 | I1154N, |
| 1155 | 10 | P1155S, |
| 1156 | 11 | D1156G, |
| 1157 | 11 | |
| 1158 | 12 | G1158S, |
| 1159 | 13 | |
| 1160 | 13 | |
| 1161 | 14 | c.3480delT, |
| 1162 | 14 | |
| 1163 | 15 | D1163E, D1163E, D1163Y, D1163G, |