chr10-104263010-G-A
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_004832.3(GSTO1):c.398G>A(p.Ser133Asn) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000402 in 1,541,120 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_004832.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GSTO1 | NM_004832.3 | c.398G>A | p.Ser133Asn | missense_variant | 4/6 | ENST00000369713.10 | |
LOC124902497 | XR_007062284.1 | n.365+5543C>T | intron_variant, non_coding_transcript_variant | ||||
GSTO1 | NM_001191003.2 | c.314G>A | p.Ser105Asn | missense_variant | 4/6 | ||
GSTO1 | NM_001191002.2 | c.367-3074G>A | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GSTO1 | ENST00000369713.10 | c.398G>A | p.Ser133Asn | missense_variant | 4/6 | 1 | NM_004832.3 | P1 |
Frequencies
GnomAD3 genomes AF: 0.000105 AC: 16AN: 152154Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000244 AC: 6AN: 246186Hom.: 0 AF XY: 0.0000225 AC XY: 3AN XY: 133136
GnomAD4 exome AF: 0.0000331 AC: 46AN: 1388966Hom.: 0 Cov.: 23 AF XY: 0.0000389 AC XY: 27AN XY: 694912
GnomAD4 genome AF: 0.000105 AC: 16AN: 152154Hom.: 0 Cov.: 32 AF XY: 0.000121 AC XY: 9AN XY: 74330
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 14, 2023 | The c.398G>A (p.S133N) alteration is located in exon 4 (coding exon 4) of the GSTO1 gene. This alteration results from a G to A substitution at nucleotide position 398, causing the serine (S) at amino acid position 133 to be replaced by an asparagine (N). 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