8-73081106-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_153225.4(SBSPON):c.322G>A(p.Gly108Ser) variant causes a missense change. The variant allele was found at a frequency of 0.000632 in 1,613,392 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_153225.4 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: 0.000493 AC: 75AN: 152212Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000391 AC: 97AN: 247788Hom.: 0 AF XY: 0.000342 AC XY: 46AN XY: 134580
GnomAD4 exome AF: 0.000646 AC: 944AN: 1461062Hom.: 0 Cov.: 32 AF XY: 0.000607 AC XY: 441AN XY: 726808
GnomAD4 genome AF: 0.000492 AC: 75AN: 152330Hom.: 0 Cov.: 32 AF XY: 0.000403 AC XY: 30AN XY: 74484
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.322G>A (p.G108S) alteration is located in exon 2 (coding exon 2) of the SBSPON gene. This alteration results from a G to A substitution at nucleotide position 322, causing the glycine (G) at amino acid position 108 to be replaced by a serine (S). 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