SCN5A Variant A1828S
Summary of observed carriers, functional annotations, and structural context for SCN5A A1828S. 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 (%) |
---|---|---|---|---|---|
-1.2 | 0.027 | -0.52 | 0.625 | 1 | 5 |
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 |
---|---|---|
1823 | 10 | E1823K, p.E1823HfsX10, |
1826 | 6 | R1826H, R1826C, |
1814 | 11 | |
1816 | 10 | D1816E, c.5445_5446insT, D1816N, D1816E, |
1794 | 15 | |
1856 | 15 | |
1825 | 10 | L1825P, |
1860 | 10 | c.5577_5578dupAA, |
1857 | 11 | |
1797 | 14 | I1797V, |
1853 | 15 | I1853V, |
1837 | 14 | |
1831 | 6 | |
1828 | 0 | A1828T, A1828S, |
1817 | 11 | |
1829 | 5 | |
1834 | 9 | S1834R, S1834R, S1834R, |
1836 | 14 | I1836T, |
1813 | 14 | |
1827 | 4 | |
1835 | 10 | L1835F, |
1818 | 7 | |
1833 | 11 | I1833M, |
1819 | 5 | D1819N, |
1821 | 9 | |
1861 | 13 | V1861I, V1861F, |
1824 | 11 | P1824A, |
1838 | 13 | |
1832 | 11 | Q1832E, |
1830 | 6 | |
1822 | 10 | c.5464-5467delTCTG, c.5464_5467delTCTG, |
1864 | 12 | |
1820 | 9 | A1820T, A1820V, |
1815 | 8 |