SCN5A Variant H151Y

Summary of observed carriers, functional annotations, and structural context for SCN5A H151Y. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT3 penetrance

2%

0/10 effective observations

Estimated BrS1 penetrance

9%

0/10 effective observations

Total carriers

0

0 BrS1 · 0 LQT3 · 0 unaffected

H151Y has not been reported 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 (%)
NA NA NA 0.455 5 0

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 – 0 0 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 H151Y.
Neighbour residue Distance (Å) Observed variants
154 7 P154L,
223 12 V223L,
856 13 V856L, V856L,
862 13
859 9
153 7
149 5
147 6
164 12 F164L, F164L, F164L,
863 14
887 13
143 12
142 15
156 6 W156R, W156R, W156X,
158 11 K158T,
886 15 H886P, H886Q, H886Q
163 15 c.486delC,
216 14 S216X, S216L,
851 12 c.2550_2551dupGT, F851L, p.F851CfsX19, c.2552_2553dupGT, F851L, F851L,
852 14
854 12 c.2559delT,
222 10 R222X, R222Q, R222L,
155 8
857 13 G857D,
150 6
157 8 T157I,
882 12
160 11 p.V160fs,
881 14
860 15 p.L860fsx89,
858 8 M858L, M858L,
144 9
855 9
148 6
884 10
204 15 A204T, c.611+1G>A, c.611+3_611+4dupAA, A204V,
162 14 Y162H, Y162C,
885 13
146 9 V146M, V146A,
152 6 D152N,
141 15 I141V, I141N,
161 9 E161K, E161Q,
219 9 p.R219HfsX11, R219C, c.656_657insATTCA, R219H,
151 0
159 13 Y159C, Y159X,
883 10
207 14
145 10
220 13 T220I,