chr10-104254948-G-A
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Variant summary
Our verdict is Benign. Variant got -16 ACMG points: 0P and 16B. BP4_StrongBP6_Very_StrongBS2
The NM_004832.3(GSTO1):c.20G>A(p.Arg7Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00235 in 1,610,756 control chromosomes in the GnomAD database, including 11 homozygotes. 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 Benign (★★).
Frequency
Genomes: 𝑓 0.0024 ( 2 hom., cov: 32)
Exomes 𝑓: 0.0023 ( 9 hom. )
Consequence
GSTO1
NM_004832.3 missense
NM_004832.3 missense
Scores
18
Clinical Significance
Conservation
PhyloP100: 0.271
Genes affected
GSTO1 (HGNC:13312): (glutathione S-transferase omega 1) The protein encoded by this gene is an omega class glutathione S-transferase (GST) with glutathione-dependent thiol transferase and dehydroascorbate reductase activities. GSTs are involved in the metabolism of xenobiotics and carcinogens. The encoded protein acts as a homodimer and is found in the cytoplasm. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -16 ACMG points.
BP4
Computational evidence support a benign effect (MetaRNN=0.0041612387).
BP6
Variant 10-104254948-G-A is Benign according to our data. Variant chr10-104254948-G-A is described in ClinVar as [Benign]. Clinvar id is 787591.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars.
BS2
High Homozygotes in GnomAd4 at 2 AR gene
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GSTO1 | NM_004832.3 | c.20G>A | p.Arg7Lys | missense_variant | 1/6 | ENST00000369713.10 | |
LOC124902497 | XR_007062284.1 | n.366-6356C>T | intron_variant, non_coding_transcript_variant | ||||
GSTO1 | NM_001191002.2 | c.20G>A | p.Arg7Lys | missense_variant | 1/5 | ||
GSTO1 | NM_001191003.2 | c.-50-215G>A | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GSTO1 | ENST00000369713.10 | c.20G>A | p.Arg7Lys | missense_variant | 1/6 | 1 | NM_004832.3 | P1 |
Frequencies
GnomAD3 genomes AF: 0.00235 AC: 358AN: 152152Hom.: 2 Cov.: 32
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GnomAD3 exomes AF: 0.00222 AC: 528AN: 238202Hom.: 0 AF XY: 0.00206 AC XY: 268AN XY: 129786
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GnomAD4 exome AF: 0.00235 AC: 3421AN: 1458486Hom.: 9 Cov.: 31 AF XY: 0.00230 AC XY: 1668AN XY: 725310
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GnomAD4 genome AF: 0.00235 AC: 358AN: 152270Hom.: 2 Cov.: 32 AF XY: 0.00277 AC XY: 206AN XY: 74444
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ClinVar
Significance: Benign
Submissions summary: Benign:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Apr 10, 2018 | - - |
Computational scores
Source:
Name
Calibrated prediction
Score
Prediction
AlphaMissense
Benign
BayesDel_addAF
Benign
T
BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
DEOGEN2
Benign
.;T
Eigen
Benign
Eigen_PC
Benign
FATHMM_MKL
Benign
N
LIST_S2
Benign
T;T
MetaRNN
Benign
T;T
MetaSVM
Benign
T
MutationAssessor
Benign
N;N
MutationTaster
Benign
N;N;N
PrimateAI
Benign
T
PROVEAN
Benign
N;N
REVEL
Benign
Sift
Benign
T;T
Sift4G
Benign
T;T
Polyphen
0.0
.;B
Vest4
MVP
MPC
0.16
ClinPred
T
GERP RS
RBP_binding_hub_radar
RBP_regulation_power_radar
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Splicing
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SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at