rs34177164
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_020451.3(SELENON):āc.846C>Gā(p.Ser282Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000248 in 1,613,676 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. S282S) has been classified as Likely benign.
Frequency
Consequence
NM_020451.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SELENON | NM_020451.3 | c.846C>G | p.Ser282Arg | missense_variant | 6/13 | ENST00000361547.7 | |
SELENON | NM_206926.2 | c.744C>G | p.Ser248Arg | missense_variant | 5/12 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SELENON | ENST00000361547.7 | c.846C>G | p.Ser282Arg | missense_variant | 6/13 | 1 | NM_020451.3 | ||
SELENON | ENST00000374315.1 | c.744C>G | p.Ser248Arg | missense_variant | 5/12 | 5 | P1 | ||
SELENON | ENST00000354177.9 | c.675C>G | p.Ser225Arg | missense_variant | 5/12 | 5 | |||
SELENON | ENST00000494537.2 | c.744C>G | p.Ser248Arg | missense_variant, NMD_transcript_variant | 5/13 | 3 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152242Hom.: 0 Cov.: 33
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1461434Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 727026
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152242Hom.: 0 Cov.: 33 AF XY: 0.0000134 AC XY: 1AN XY: 74370
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at