SCN5A Variant S835A
Summary of observed carriers, functional annotations, and structural context for SCN5A S835A. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT3 penetrance
9%
0/13 effective observations
Estimated BrS1 penetrance
21%
2/13 effective observations
Total carriers
3
0 BrS1 · 0 LQT3 · 3 unaffected
Variant features alone are equivalent to phenotyping 2 individuals for Brugada syndrome and 0 individuals for LQT3.
In silico predictors
| PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
|---|---|---|---|---|---|
| -2.97 | 0.895 | 0.47 | 0.906 | 38 | 17 |
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 | 13 | 0 | 2 | – | – |
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 |
|---|---|---|
| 939 | 13 | L939F, |
| 937 | 8 | |
| 839 | 5 | L839P, |
| 842 | 10 | |
| 943 | 13 | S943N, |
| 1455 | 14 | |
| 1461 | 14 | T1461S, T1461S, |
| 836 | 4 | V836M, |
| 826 | 15 | N826D, |
| 234 | 12 | P234S, |
| 934 | 10 | |
| 933 | 13 | |
| 935 | 14 | L935P, |
| 1464 | 13 | c.4389_4396delCCTCTTTA, L1464P |
| 944 | 14 | |
| 845 | 15 | c.2533delG, |
| 830 | 10 | |
| 833 | 5 | G833R, G833R, |
| 940 | 10 | S940N, |
| 831 | 7 | |
| 420 | 13 | |
| 938 | 9 | |
| 235 | 12 | c.703+1G>A, G235R, G235R, c.704-1G>C, |
| 840 | 8 | |
| 942 | 9 | |
| 843 | 11 | T843A, |
| 1456 | 12 | |
| 1459 | 15 | c.4376_4379delTCTT, |
| 834 | 5 | N834D, |
| 827 | 13 | |
| 1460 | 10 | F1460L, F1460L, F1460L, |
| 837 | 5 | |
| 239 | 13 | I239V, I239V , |
| 416 | 13 | Y416C, |
| 841 | 9 | p.N841TfsX2, N841K, N841K, |
| 941 | 7 | S941N, S941F, |
| 936 | 12 | |
| 238 | 12 | |
| 233 | 14 | |
| 838 | 5 | |
| 844 | 13 | L844RfsX3, |
| 829 | 10 | |
| 832 | 5 | |
| 835 | 0 | S835A, S835L, |
| 828 | 10 | L828V, |
| 1463 | 15 | N1463Y, |