rs969740502
Variant summary
Our verdict is Benign. Variant got -17 ACMG points: 0P and 17B. BP4_StrongBP6_Very_StrongBP7BS2
The NM_005634.3(SOX3):āc.1236C>Gā(p.Ala412Ala) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000186 in 1,180,184 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 6 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (ā ā ).
Frequency
Consequence
NM_005634.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -17 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000178 AC: 2AN: 112582Hom.: 0 Cov.: 23 AF XY: 0.0000288 AC XY: 1AN XY: 34754
GnomAD3 exomes AF: 0.0000156 AC: 2AN: 128142Hom.: 0 AF XY: 0.0000490 AC XY: 2AN XY: 40840
GnomAD4 exome AF: 0.0000187 AC: 20AN: 1067602Hom.: 0 Cov.: 32 AF XY: 0.0000144 AC XY: 5AN XY: 347728
GnomAD4 genome AF: 0.0000178 AC: 2AN: 112582Hom.: 0 Cov.: 23 AF XY: 0.0000288 AC XY: 1AN XY: 34754
ClinVar
Submissions by phenotype
not provided Benign:2
- -
SOX3: BP4, BP7, BS2 -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at