2-109614883-C-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_023016.4(SOWAHC):c.394C>G(p.Arg132Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000393 in 1,426,672 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: 0.0000132 AC: 2AN: 151868Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000623 AC: 2AN: 32098Hom.: 0 AF XY: 0.000117 AC XY: 2AN XY: 17136
GnomAD4 exome AF: 0.0000424 AC: 54AN: 1274804Hom.: 0 Cov.: 35 AF XY: 0.0000466 AC XY: 29AN XY: 621936
GnomAD4 genome AF: 0.0000132 AC: 2AN: 151868Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74194
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.394C>G (p.R132G) alteration is located in exon 1 (coding exon 1) of the SOWAHC gene. This alteration results from a C to G substitution at nucleotide position 394, causing the arginine (R) at amino acid position 132 to be replaced by a glycine (G). 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