SCN5A Variant A1125G
Summary of observed carriers, functional annotations, and structural context for SCN5A A1125G. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT3 penetrance
4%
0/13 effective observations
Estimated BrS1 penetrance
3%
0/13 effective observations
Total carriers
3
0 BrS1 · 0 LQT3 · 3 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 (%) |
|---|---|---|---|---|---|
| -1.04 | 0.001 | -0.88 | 0.505 | 1 | 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 | – | 3 | 3 | 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 |
|---|---|---|
| 1110 | 15 | |
| 1111 | 14 | |
| 1112 | 14 | Q1112X, |
| 1113 | 13 | A1113V, A1113T, |
| 1114 | 13 | D1114E, D1114E, D1114N, |
| 1115 | 12 | W1115R, W1115R, W1115X, |
| 1116 | 11 | R1116Q, R1116W, |
| 1117 | 11 | |
| 1118 | 10 | Q1118X, |
| 1119 | 9 | |
| 1120 | 8 | |
| 1121 | 8 | A1121V, |
| 1122 | 7 | |
| 1123 | 5 | |
| 1124 | 4 | |
| 1125 | 0 | A1125T, A1125G, A1125V, |
| 1126 | 4 | |
| 1127 | 5 | |
| 1128 | 7 | C1128X, |
| 1129 | 8 | G1129S, |
| 1130 | 8 | E1130K, |
| 1131 | 9 | c.3390-1G>A, T1131I, c.3391-1G>A, T1131S, T1131S, |
| 1132 | 10 | P1132S, |
| 1133 | 11 | |
| 1134 | 11 | D1134N, D1134E, D1134E, |
| 1135 | 12 | S1135I |
| 1136 | 13 | C1136Y, |
| 1137 | 13 | |
| 1138 | 14 | |
| 1139 | 14 | |
| 1140 | 15 | S1140T, |