rs748234376
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.
The NM_006941.4(SOX10):c.773G>T(p.Arg258Leu) variant causes a missense change. The variant allele was found at a frequency of 0.0000118 in 1,612,732 control chromosomes in the GnomAD database, including 1 homozygotes. 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. R258Q) has been classified as Uncertain significance.
Frequency
Consequence
NM_006941.4 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 | UniProt |
---|---|---|---|---|---|---|---|
SOX10 | NM_006941.4 | c.773G>T | p.Arg258Leu | missense_variant | 4/4 | ENST00000396884.8 | |
POLR2F | NM_001301130.2 | c.293+6953C>A | intron_variant | ||||
POLR2F | NM_001301131.2 | c.293+6953C>A | intron_variant | ||||
POLR2F | NM_001363825.1 | c.*38+1813C>A | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SOX10 | ENST00000396884.8 | c.773G>T | p.Arg258Leu | missense_variant | 4/4 | 1 | NM_006941.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.00000658 AC: 1AN: 152088Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000807 AC: 2AN: 247702Hom.: 0 AF XY: 0.00000744 AC XY: 1AN XY: 134360
GnomAD4 exome AF: 0.0000123 AC: 18AN: 1460644Hom.: 1 Cov.: 40 AF XY: 0.0000151 AC XY: 11AN XY: 726736
GnomAD4 genome ? AF: 0.00000658 AC: 1AN: 152088Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74284
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at