Variant #0000626500 (NC_000003.11:g.38671883C>T, NM_198056.2:c.311G>A (SCN5A))
| Individual ID |
00271419 |
| Chromosome |
3 |
| Allele |
Unknown |
| Affects function (as reported) |
Affects function |
| Affects function (by curator) |
Not classified |
| Classification method |
ACMG |
| Clinical classification |
pathogenic |
| DNA change (genomic) (Relative to hg19 / GRCh37) |
g.38671883C>T |
| DNA change (hg38) |
g.38630392C>T |
| Published as |
- |
| ISCN |
- |
| DB-ID |
SCN5A_000655 See all 4 reported entries |
| Variant remarks |
ACMG: PP3,PS1,PM2,PM5,PS3; p.Arg104Gln (R104Q) CGG>CAG: c.311 G>A in exon 3 of the SCN5A gene (NM _198056.2) The R104Q mutation in th e SCN5A gene has been reported in o ne Moroccan individual with Brugada syndrome who had a family history of Brugada syndrome in two siblings (Levy-Nissenbaum E et al., 2001). Furthermore, in vitro studies in a mammalian expression system showed that R104Q did not result in a func tional sodium channel (Gutter C et al., 2013). R104Q is a non-conserva tive amino acid substitution as the se residues differ in polarity, cha rge, size and/or other properties a nd is more likely to impact seconda ry structure. The R104 residue is h ighly conserved across species (Lev y-Nissenbaum E et al., 2001). Mutat ions in the same residue (R104G, R1 04W) and in nearby residues (V95I, N109K) have been reported in associ ation with arrhythmia, further supp orting the functional importance of this residue and this region of th e protein. Additionally, the R104Q mutation was not observed in approx imately 6500 individuals of Europea n and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common beni gn variant in these populations. Th e variant is found in CARDIOMYOPATH Y panel(s).; Gütter et al. 2013. Front Physiol 4: 153; Levy-Nissenbaum et al. 2001. Genet Test 5: 331 |
| Reference |
- |
| ClinVar ID |
- |
| dbSNP ID |
rs199473554 |
| Origin |
Germline |
| Segregation |
- |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
Retrieve |
| Owner |
Andreas Laner |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Andreas Laner |
| Date created |
2019-12-19 11:56:30 +01:00 (CET) |
| Date last edited |
2020-03-28 07:05:27 +01:00 (CET) |
Variant on transcripts
Screenings
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