SCN5A Variant D1714G
Summary of observed carriers, functional annotations, and structural context for SCN5A D1714G. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT3 penetrance
3%
0/11 effective observations
Estimated BrS1 penetrance
59%
6/11 effective observations
Total carriers
1
1 BrS1 · 0 LQT3 · 0 unaffected
Variant features alone are equivalent to phenotyping 5 individuals for Brugada syndrome and 0 individuals for LQT3.
In silico predictors
| PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
|---|---|---|---|---|---|
| -5.95 | 1 | -3.31 | 0.958 | 82 | 1 |
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 |
|---|---|---|---|---|---|---|---|
| 16266370 | 2005 | 1 | 0 | 1 | 0 | ||
| 21273195 | 2011 | 1 | 0 | 1 | 0 | ||
| 19251209 | 2009 | 1 | 0 | 1 | 0 | ||
| 20129283 | 2010 | 1 | 0 | 1 | 0 | ||
| Literature, cohort, and gnomAD | – | 1 | 0 | 0 | 1 | – | |
| Variant features alone | – | 15 | 10 | 0 | 5 | – | – |
Totals may differ from individual publications due to duplicate patients removed during curation.
Functional data
Peak and late/persistent current values are relative to wild-type (100% indicates no change). V1/2 activation and inactivation denote the membrane potentials (mV) at which half-maximal current is achieved.
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 |
|---|---|---|
| 1417 | 10 | |
| 1406 | 15 | G1406R, G1406R, G1406E, |
| 1715 | 4 | |
| 1687 | 10 | |
| 1745 | 14 | |
| 1756 | 12 | I1756V |
| 1711 | 9 | c.5131delG, |
| 1723 | 14 | T1723N, |
| 1707 | 11 | |
| 1398 | 11 | V1398M, |
| 1411 | 9 | |
| 1407 | 13 | |
| 1704 | 15 | L1704H, |
| 1410 | 10 | |
| 1706 | 12 | Q1706H, Q1706H, |
| 1716 | 7 | p.L1716SfsX71, |
| 1714 | 0 | D1714G, |
| 376 | 14 | R376C, R376H, |
| 1688 | 12 | |
| 1423 | 9 | D1423H, |
| 1692 | 15 | |
| 1744 | 14 | S1744I, |
| 1721 | 10 | |
| 1753 | 13 | T1753A, |
| 1422 | 11 | M1422R, |
| 1418 | 12 | |
| 373 | 13 | |
| 1712 | 6 | G1712S, G1712C, |
| 379 | 14 | |
| 1703 | 13 | |
| 898 | 14 | |
| 1412 | 13 | L1412F, |
| 1719 | 9 | |
| 1408 | 13 | G1408R, G1408R, |
| 1709 | 14 | p.T1709del, T1709R, T1709M, |
| 1420 | 6 | G1420R, G1420D, G1420V, G1420P, |
| 1360 | 14 | F1360C, |
| 1755 | 15 | |
| 1401 | 12 | |
| 1425 | 14 | |
| 1399 | 9 | |
| 1713 | 7 | |
| 1427 | 14 | A1427S, A1427E, |
| 1424 | 9 | I1424V, |
| 1748 | 12 | p.G1748del, G1748D, |
| 1409 | 14 | Y1409C, Y1409X, |
| 1400 | 8 | V1400I, |
| 1421 | 10 | |
| 1718 | 6 | S1718R, S1718R, S1718R, |
| 374 | 15 | W374G, |
| 1717 | 5 | L1717P, |
| 1751 | 14 | |
| 1416 | 12 | c.4245+1G>A, c.4245+1G>C, c.4245+2T>A, A1416E, A1416G, |
| 1760 | 15 | |
| 1752 | 10 | |
| 1722 | 14 | N1722D, |
| 1686 | 8 | |
| 1749 | 12 | I1749N, |
| 375 | 11 | |
| 1710 | 11 | S1710L, |
| 1720 | 10 | c.5157delC, |
| 1415 | 11 | |
| 1685 | 11 | |
| 1419 | 7 | K1419E, |
| 1414 | 6 | Q1414H, Q1414H, |
| 1402 | 14 | |
| 1413 | 10 |