chr10-104254948-G-A

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

Scores

18

Clinical Significance

Benign criteria provided, multiple submitters, no conflicts B:2

Conservation

PhyloP100: 0.271
Variant links:
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
GSTO1NM_004832.3 linkuse as main transcriptc.20G>A p.Arg7Lys missense_variant 1/6 ENST00000369713.10
LOC124902497XR_007062284.1 linkuse as main transcriptn.366-6356C>T intron_variant, non_coding_transcript_variant
GSTO1NM_001191002.2 linkuse as main transcriptc.20G>A p.Arg7Lys missense_variant 1/5
GSTO1NM_001191003.2 linkuse as main transcriptc.-50-215G>A intron_variant

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Appris UniProt
GSTO1ENST00000369713.10 linkuse as main transcriptc.20G>A p.Arg7Lys missense_variant 1/61 NM_004832.3 P1P78417-1

Frequencies

GnomAD3 genomes
AF:
0.00235
AC:
358
AN:
152152
Hom.:
2
Cov.:
32
show subpopulations
Gnomad AFR
AF:
0.000338
Gnomad AMI
AF:
0.00
Gnomad AMR
AF:
0.000720
Gnomad ASJ
AF:
0.00173
Gnomad EAS
AF:
0.00
Gnomad SAS
AF:
0.00
Gnomad FIN
AF:
0.0125
Gnomad MID
AF:
0.00
Gnomad NFE
AF:
0.00279
Gnomad OTH
AF:
0.00191
GnomAD3 exomes
AF:
0.00222
AC:
528
AN:
238202
Hom.:
0
AF XY:
0.00206
AC XY:
268
AN XY:
129786
show subpopulations
Gnomad AFR exome
AF:
0.000477
Gnomad AMR exome
AF:
0.000207
Gnomad ASJ exome
AF:
0.00239
Gnomad EAS exome
AF:
0.00
Gnomad SAS exome
AF:
0.00
Gnomad FIN exome
AF:
0.0118
Gnomad NFE exome
AF:
0.00226
Gnomad OTH exome
AF:
0.00191
GnomAD4 exome
AF:
0.00235
AC:
3421
AN:
1458486
Hom.:
9
Cov.:
31
AF XY:
0.00230
AC XY:
1668
AN XY:
725310
show subpopulations
Gnomad4 AFR exome
AF:
0.000389
Gnomad4 AMR exome
AF:
0.000248
Gnomad4 ASJ exome
AF:
0.00251
Gnomad4 EAS exome
AF:
0.00
Gnomad4 SAS exome
AF:
0.00
Gnomad4 FIN exome
AF:
0.0117
Gnomad4 NFE exome
AF:
0.00233
Gnomad4 OTH exome
AF:
0.00204
GnomAD4 genome
AF:
0.00235
AC:
358
AN:
152270
Hom.:
2
Cov.:
32
AF XY:
0.00277
AC XY:
206
AN XY:
74444
show subpopulations
Gnomad4 AFR
AF:
0.000337
Gnomad4 AMR
AF:
0.000719
Gnomad4 ASJ
AF:
0.00173
Gnomad4 EAS
AF:
0.00
Gnomad4 SAS
AF:
0.00
Gnomad4 FIN
AF:
0.0125
Gnomad4 NFE
AF:
0.00279
Gnomad4 OTH
AF:
0.00189
Alfa
AF:
0.00199
Hom.:
1
Bravo
AF:
0.00133
TwinsUK
AF:
0.00
AC:
0
ALSPAC
AF:
0.000778
AC:
3
ESP6500AA
AF:
0.00
AC:
0
ESP6500EA
AF:
0.00209
AC:
18
ExAC
AF:
0.00191
AC:
231
Asia WGS
AF:
0.000289
AC:
1
AN:
3478

ClinVar

Significance: Benign
Submissions summary: Benign:2
Revision: criteria provided, multiple submitters, no conflicts
LINK: link

Submissions by phenotype

not provided Benign:2
Benign, criteria provided, single submitternot providedBreakthrough Genomics, Breakthrough Genomics-- -
Benign, criteria provided, single submitterclinical testingLabcorp Genetics (formerly Invitae), LabcorpApr 10, 2018- -

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
AlphaMissense
Benign
0.11
BayesDel_addAF
Benign
-0.67
T
BayesDel_noAF
Benign
-0.73
CADD
Benign
11
DANN
Benign
0.83
DEOGEN2
Benign
0.022
.;T
Eigen
Benign
-1.2
Eigen_PC
Benign
-1.2
FATHMM_MKL
Benign
0.25
N
LIST_S2
Benign
0.71
T;T
MetaRNN
Benign
0.0042
T;T
MetaSVM
Benign
-0.93
T
MutationAssessor
Benign
-0.24
N;N
MutationTaster
Benign
1.0
N;N;N
PrimateAI
Benign
0.42
T
PROVEAN
Benign
-0.17
N;N
REVEL
Benign
0.023
Sift
Benign
1.0
T;T
Sift4G
Benign
1.0
T;T
Polyphen
0.0
.;B
Vest4
0.056
MVP
0.21
MPC
0.16
ClinPred
0.0046
T
GERP RS
1.0
RBP_binding_hub_radar
1.1
RBP_regulation_power_radar
2.2
Varity_R
0.21
gMVP
0.54

Splicing

Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
0.0
Details are displayed if max score is > 0.2

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Below is the list of publications found by LitVar. It may be empty.

Other links and lift over

dbSNP: rs72559704; hg19: chr10-106014706; API