rs200885240
Variant summary
Our verdict is Uncertain significance. The variant received 2 ACMG points: 2P and 0B. PM2
The NM_001365536.1(SCN9A):c.253A>G(p.Lys85Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000711 in 1,406,296 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001365536.1 missense
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Uncertain_significance. The variant received 2 ACMG points.
Variant Effect in Transcripts
ACMG analysis was done for transcript: NM_001365536.1. You can select a different transcript below to see updated ACMG assignments.
Ensembl Transcripts
| Sel. | Gene | Transcript | Tags | HGVSc | HGVSp | Effect | Exon Rank | Protein | UniProt |
|---|---|---|---|---|---|---|---|---|---|
| SCN9A | MANE Select | c.253A>G | p.Lys85Glu | missense | Exon 2 of 27 | ENSP00000495601.1 | Q15858-1 | ||
| SCN9A | TSL:5 | c.253A>G | p.Lys85Glu | missense | Exon 2 of 27 | ENSP00000304748.7 | Q15858-1 | ||
| SCN9A | TSL:5 | c.253A>G | p.Lys85Glu | missense | Exon 2 of 27 | ENSP00000386306.1 | Q15858-3 |
Frequencies
GnomAD3 genomes Cov.: 24
GnomAD4 exome AF: 7.11e-7 AC: 1AN: 1406296Hom.: 0 Cov.: 29 AF XY: 0.00 AC XY: 0AN XY: 695180 show subpopulations
GnomAD4 genome Cov.: 24
ClinVar
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at