SCN5A Variant A1121V

Summary of observed carriers, functional annotations, and structural context for SCN5A A1121V. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT3 penetrance

1%

0/21 effective observations

Estimated BrS1 penetrance

1%

0/21 effective observations

Total carriers

11

0 BrS1 · 0 LQT3 · 11 unaffected

A1121V is present in 11 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 (%)
-0.37 0 -0.96 0.292 1 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

Observed carriers by publication or cohort.
Source Year Carriers Unaffected LQT3 BrS1 Other Other Disease
Literature, cohort, and gnomAD – 11 11 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 A1121V.
Neighbour residue Distance (Å) Observed variants
1106 15 A1106T,
1107 14 E1107X, E1107K, p.E1107RfsX24,
1108 14
1109 13 S1109G,
1110 13
1111 12
1112 11 Q1112X,
1113 11 A1113V, A1113T,
1114 10 D1114E, D1114E, D1114N,
1115 9 W1115R, W1115R, W1115X,
1116 8 R1116Q, R1116W,
1117 8
1118 7 Q1118X,
1119 5
1120 4
1121 0 A1121V,
1122 4
1123 5
1124 7
1125 8 A1125T, A1125G, A1125V,
1126 8
1127 9
1128 10 C1128X,
1129 11 G1129S,
1130 11 E1130K,
1131 12 c.3390-1G>A, T1131I, c.3391-1G>A, T1131S, T1131S,
1132 13 P1132S,
1133 13
1134 14 D1134N, D1134E, D1134E,
1135 14 S1135I
1136 15 C1136Y,