SCN5A Variant A1088T

Summary of observed carriers, functional annotations, and structural context for SCN5A A1088T. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT3 penetrance

0%

0/41 effective observations

Estimated BrS1 penetrance

0%

0/41 effective observations

Total carriers

31

0 BrS1 · 0 LQT3 · 31 unaffected

A1088T is present in 31 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 (%)
-0.16 0.001 0.25 0.237 1 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

Observed carriers by publication or cohort.
Source Year Carriers Unaffected LQT3 BrS1 Other Other Disease
Literature, cohort, and gnomAD – 31 31 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 A1088T.
Neighbour residue Distance (Å) Observed variants
1073 15
1074 14 S1074G, S1074R, S1074R, S1074R,
1075 14
1076 13
1077 13 c.3228+2delT,
1078 12
1079 11 S1079Y, S1079T, S1079F,
1080 11
1081 10
1082 9 V1082A,
1083 8 S1083C,
1084 8 G1084D, G1084R, G1084S,
1085 7
1086 5
1087 4
1088 0 A1088T, A1088V,
1089 4
1090 5 P1090Q, P1090L,
1091 7 D1091Y, D1091A,
1092 8
1093 8
1094 9
1095 10 W1095C, W1095X, W1095C,
1096 11 S1096G, S1096C,
1097 11 Q1097H, Q1097H, c.3288+2delT,
1098 12 V1098L, V1098M, V1098L,
1099 13
1100 13 A1100T, A1100V,
1101 14
1102 14 A1102T,
1103 15 S1103F, S1103Y,