chr22-37974143-C-G
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP4_ModerateBP6_ModerateBP7BS2
The NM_006941.4(SOX10):āc.753G>Cā(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 (ā ). 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 Benign. Variant got -9 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