SCN5A Variant S1109G

Summary of observed carriers, functional annotations, and structural context for SCN5A S1109G. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT3 penetrance

4%

0/17 effective observations

Estimated BrS1 penetrance

3%

0/17 effective observations

Total carriers

7

0 BrS1 · 0 LQT3 · 7 unaffected

S1109G is present in 7 alleles in gnomAD. This residue resides in a Non_Hotspot region for Brugada syndrome and a Non_Hotspot region for LQT3.

Variant features alone are equivalent to phenotyping 0 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 (%)
-1.36 0 -1.17 0.327 1 9

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 – 7 7 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.

Previously observed variants near S1109G.
Neighbour residue Distance (Å) Observed variants
1094 15
1095 14 W1095C, W1095X, W1095C,
1096 14 S1096G, S1096C,
1097 13 Q1097H, Q1097H, c.3288+2delT,
1098 13 V1098L, V1098M, V1098L,
1099 12
1100 11 A1100T, A1100V,
1101 11
1102 10 A1102T,
1103 9 S1103F, S1103Y,
1104 8
1105 8 E1105V, E1105X,
1106 7 A1106T,
1107 5 E1107X, E1107K, p.E1107RfsX24,
1108 4
1109 0 S1109G,
1110 4
1111 5
1112 7 Q1112X,
1113 8 A1113V, A1113T,
1114 8 D1114E, D1114E, D1114N,
1115 9 W1115R, W1115R, W1115X,
1116 10 R1116Q, R1116W,
1117 11
1118 11 Q1118X,
1119 12
1120 13
1121 13 A1121V,
1122 14
1123 14
1124 15