SCN5A Variant V2016L
Summary of observed carriers, functional annotations, and structural context for SCN5A V2016L. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT3 penetrance
4%
0/11 effective observations
Estimated BrS1 penetrance
8%
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 (%) |
|---|---|---|---|---|---|
| -0.5 | 0.972 | 2.4 | 0.496 | 5 | 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 |
|---|---|---|
| 2001 | 15 | |
| 2002 | 14 | A2002T, |
| 2003 | 14 | D2003N, |
| 2004 | 13 | F2004V, F2004L, p.F2004dup, F2004I, |
| 2005 | 13 | P2005S, P2005A, P2005L, |
| 2006 | 12 | P2006T, p.Pro2006del, P2006A, p.P2006LfsX32, |
| 2007 | 11 | p.S2007FfsX7, |
| 2008 | 11 | P2008L, |
| 2009 | 10 | D2009E, |
| 2010 | 9 | R2010G, |
| 2011 | 8 | |
| 2012 | 8 | R2012H, R2012C |
| 2013 | 7 | |
| 2014 | 5 | |
| 2015 | 4 | |
| 2016 | 0 | V2016M, V2016L, |