2-166284527-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001365536.1(SCN9A):c.1900C>G(p.Arg634Gly) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R634H) has been classified as Likely benign.
Frequency
Consequence
NM_001365536.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SCN9A | NM_001365536.1 | c.1900C>G | p.Arg634Gly | missense_variant | 12/27 | ENST00000642356.2 | NP_001352465.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SCN9A | ENST00000642356.2 | c.1900C>G | p.Arg634Gly | missense_variant | 12/27 | NM_001365536.1 | ENSP00000495601.1 | |||
SCN9A | ENST00000303354.11 | c.1900C>G | p.Arg634Gly | missense_variant | 12/27 | 5 | ENSP00000304748.7 | |||
SCN9A | ENST00000409672.5 | c.1900C>G | p.Arg634Gly | missense_variant | 12/27 | 5 | ENSP00000386306.1 | |||
SCN9A | ENST00000645907.1 | c.1900C>G | p.Arg634Gly | missense_variant | 12/27 | ENSP00000495983.1 | ||||
SCN9A | ENST00000454569.6 | c.1900C>G | p.Arg634Gly | missense_variant | 12/15 | 1 | ENSP00000413212.2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 32
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at