SCN5A Variant F147L

Summary of observed carriers, functional annotations, and structural context for SCN5A F147L. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT3 penetrance

3%

0/10 effective observations

Estimated BrS1 penetrance

10%

1/10 effective observations

Total carriers

0

0 BrS1 · 0 LQT3 · 0 unaffected

F147L 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 1 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 0.85 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 14 0 1 – –

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 F147L.
Neighbour residue Distance (Å) Observed variants
154 11 P154L,
223 12 V223L,
859 13
153 10
149 7
147 0
164 8 F164L, F164L, F164L,
143 7
142 11
156 9 W156R, W156R, W156X,
158 10 K158T,
163 11 c.486delC,
851 12 c.2550_2551dupGT, F851L, p.F851CfsX19, c.2552_2553dupGT, F851L, F851L,
852 15
854 15 c.2559delT,
222 10 R222X, R222Q, R222L,
155 9
150 6
157 7 T157I,
160 7 p.V160fs,
226 13 A226G, A226V,
166 15 A166T,
858 13 M858L, M858L
144 5
855 12
139 13 p.I137_C139dup,
148 5
165 12
884 12
204 14 A204T, c.611+1G>A, c.611+3_611+4dupAA, A204V,
162 12 Y162H, Y162C,
146 6 V146M, V146A,
208 15 E208K,
168 13
152 10 D152N,
141 11 I141V, I141N,
167 14
161 7 E161K, E161Q,
219 11 p.R219HfsX11, R219C, c.656_657insATTCA, R219H,
225 13 R225W, R225Q,
151 6
159 10 Y159C, Y159X,
883 15
207 15
145 7
140 10