22-37974143-C-G
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP4_ModerateBP6_ModerateBP7
The NM_006941.4(SOX10):c.753G>C(p.Ser251=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000288 in 1,459,224 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★). Synonymous variant affecting the same amino acid position (i.e. S251S) has been classified as Likely benign.
Frequency
Consequence
NM_006941.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SOX10 | NM_006941.4 | c.753G>C | p.Ser251= | synonymous_variant | 4/4 | ENST00000396884.8 | |
POLR2F | NM_001301130.2 | c.293+6973C>G | intron_variant | ||||
POLR2F | NM_001301131.2 | c.293+6973C>G | intron_variant | ||||
POLR2F | NM_001363825.1 | c.*38+1833C>G | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SOX10 | ENST00000396884.8 | c.753G>C | p.Ser251= | synonymous_variant | 4/4 | 1 | NM_006941.4 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.00000813 AC: 2AN: 246080Hom.: 0 AF XY: 0.00000748 AC XY: 1AN XY: 133678
GnomAD4 exome AF: 0.0000288 AC: 42AN: 1459224Hom.: 0 Cov.: 40 AF XY: 0.0000344 AC XY: 25AN XY: 726084
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Nov 10, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at