2-109614582-C-A
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_023016.4(SOWAHC):c.93C>A(p.His31Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000924 in 1,407,338 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_023016.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000138 AC: 21AN: 151662Hom.: 0 Cov.: 35
GnomAD3 exomes AF: 0.000140 AC: 7AN: 50032Hom.: 0 AF XY: 0.000101 AC XY: 3AN XY: 29614
GnomAD4 exome AF: 0.0000868 AC: 109AN: 1255568Hom.: 0 Cov.: 29 AF XY: 0.0000925 AC XY: 57AN XY: 616492
GnomAD4 genome AF: 0.000138 AC: 21AN: 151770Hom.: 0 Cov.: 35 AF XY: 0.000135 AC XY: 10AN XY: 74178
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.93C>A (p.H31Q) alteration is located in exon 1 (coding exon 1) of the SOWAHC gene. This alteration results from a C to A substitution at nucleotide position 93, causing the histidine (H) at amino acid position 31 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at