2-109614860-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_023016.4(SOWAHC):c.371C>G(p.Pro124Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000314 in 1,399,540 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 Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000856 AC: 13AN: 151932Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000666 AC: 1AN: 15006Hom.: 0 AF XY: 0.000112 AC XY: 1AN XY: 8922
GnomAD4 exome AF: 0.0000248 AC: 31AN: 1247608Hom.: 0 Cov.: 35 AF XY: 0.0000180 AC XY: 11AN XY: 609634
GnomAD4 genome AF: 0.0000856 AC: 13AN: 151932Hom.: 0 Cov.: 33 AF XY: 0.0000270 AC XY: 2AN XY: 74198
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.371C>G (p.P124R) 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 371, causing the proline (P) at amino acid position 124 to be replaced by an arginine (R). 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