SCN5A Variant G911E

Summary of observed carriers, functional annotations, and structural context for SCN5A G911E. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT3 penetrance

7%

0/11 effective observations

Estimated BrS1 penetrance

19%

2/11 effective observations

Total carriers

1

0 BrS1 · 0 LQT3 · 1 unaffected

G911E is present in 1 alleles in gnomAD. This residue resides in a Mild_Hotspot region for Brugada syndrome and a Non_Hotspot region for LQT3.

Variant features alone are equivalent to phenotyping 2 individuals for Brugada syndrome and 0 individuals for LQT3.

In silico predictors

Variant-level computational predictors.
PROVEAN PolyPhen-2 BLAST-PSSM REVEL Penetrance Density BrS (%) Penetrance Density LQT3 (%)
-5.19 1 -2.31 0.931 17 8

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

Observed carriers by publication or cohort.
Source Year Carriers Unaffected LQT3 BrS1 Other Other Disease
Literature, cohort, and gnomAD – 1 1 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.

Previously observed variants near G911E.
Neighbour residue Distance (Å) Observed variants
919 13
870 14
862 13
363 14
867 13 E867K, E867Q, E867X,
360 12
863 13
904 11 W904X,
864 9
871 14
909 7
857 14 G857D,
868 11 c.2602delC, L868X,
902 13
881 14
860 12 p.L860fsx89,
911 0 G911E,
900 15
918 13
917 12 L917V, L917R
865 12
913 5
916 10
912 4 Q912R,
906 7
351 13 G351S, G351C, G351D, G351V,
910 4 S910L,
350 12 H350Q, H350Q,
903 10 p.M903CfsX29,
359 14 A359T, p.A359PfsX12,
905 11
352 10 Y352C,
915 7 C915R,
908 8
914 8
861 10 p.F861WfsX90, c.2582_2583delTT,
907 6