4-76896243-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001029870.3(SOWAHB):c.1607G>A(p.Gly536Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000772 in 1,593,060 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001029870.3 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: 0.0000788 AC: 12AN: 152250Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000121 AC: 29AN: 240572Hom.: 0 AF XY: 0.000146 AC XY: 19AN XY: 130458
GnomAD4 exome AF: 0.0000770 AC: 111AN: 1440692Hom.: 1 Cov.: 32 AF XY: 0.000113 AC XY: 81AN XY: 714314
GnomAD4 genome AF: 0.0000788 AC: 12AN: 152368Hom.: 0 Cov.: 33 AF XY: 0.000121 AC XY: 9AN XY: 74512
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1607G>A (p.G536E) alteration is located in exon 1 (coding exon 1) of the SOWAHB gene. This alteration results from a G to A substitution at nucleotide position 1607, causing the glycine (G) at amino acid position 536 to be replaced by a glutamic acid (E). 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