SCN5A Variant c.2914_2923delTTTGTCAAGC
Summary of observed carriers, functional annotations, and structural context for SCN5A c.2914_2923delTTTGTCAAGC. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT3 penetrance
5%
0/11 effective observations
Estimated BrS1 penetrance
44%
4/11 effective observations
Total carriers
1
1 BrS1 · 0 LQT3 · 0 unaffected
Variant features alone are equivalent to phenotyping 3 individuals for Brugada syndrome and 0 individuals for LQT3.
In silico predictors
| PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
|---|---|---|---|---|---|
| NA | NA | NA | None | 55 | 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 |
|---|---|---|---|---|---|---|---|
| 20129283 | 2010 | 1 | 0 | 1 | 0 | ||
| Literature, cohort, and gnomAD | – | 1 | 0 | 0 | 1 | – | |
| Variant features alone | – | 15 | 12 | 0 | 3 | – | – |
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.
| PubMed ID | Year | Cell Type | Peak Current (% WT) | V1/2 Activation (mV) | V1/2 Inactivation (mV) | Late/Persistent Current (% WT) |
|---|---|---|---|---|---|---|
| 20129283 | 2010 |
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 |
|---|---|---|
| 957 | 15 | |
| 958 | 14 | |
| 959 | 14 | L959P, |
| 960 | 13 | Q960K, |
| 961 | 13 | |
| 962 | 12 | |
| 963 | 11 | |
| 964 | 11 | A964G, |
| 965 | 10 | R965C, R965H, R965L, |
| 966 | 9 | |
| 967 | 8 | Q967R, |
| 968 | 8 | |
| 969 | 7 | G969C, G969S, |
| 970 | 5 | |
| 971 | 4 | R971C, R971H, |
| 972 | 0 | c.2914_2923delTTTGTCAAGC, |
| 973 | 4 | |
| 974 | 5 | K974D, |
| 975 | 7 | R975W, R975Q, |
| 976 | 8 | |
| 977 | 8 | |
| 978 | 9 | |
| 979 | 10 | D979H, |
| 980 | 11 | |
| 981 | 11 | C981F, |
| 982 | 12 | C982R, |
| 983 | 13 | G983D, |
| 984 | 13 | |
| 985 | 14 | |
| 986 | 14 | R986L, R986W, R986Q, |
| 987 | 15 |