rs2282326

chr10-104260640-A-C

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NM_004832.3(GSTO1):c.366+842A>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.449 in 152,110 control chromosomes in the GnomAD database, including 17,362 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.45 (17362 hom., cov: 33)
• Consequence: GSTO1 NM_004832.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.45

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]

LOC124902497 (HGNC:):

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.87).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.693 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
GSTO1	NM_004832.3	c.366+842A>C		intron_variant		ENST00000369713.10
LOC124902497	XR_007062284.1	n.365+7913T>G		intron_variant, non_coding_transcript_variant
GSTO1	NM_001191002.2	c.366+842A>C		intron_variant
GSTO1	NM_001191003.2	c.282+842A>C		intron_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
GSTO1	ENST00000369713.10	c.366+842A>C		intron_variant		1	NM_004832.3	P1

Frequencies

GnomAD3 genomes AF: 0.449 AC: 68180 AN: 151992 Hom.: 17318 Cov.: 33

Gnomad AFR AF: 0.699

Gnomad AMI AF: 0.209

Gnomad AMR AF: 0.342

Gnomad ASJ AF: 0.472

Gnomad EAS AF: 0.248

Gnomad SAS AF: 0.349

Gnomad FIN AF: 0.321

Gnomad MID AF: 0.462

Gnomad NFE AF: 0.364

Gnomad OTH AF: 0.449

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.449 AC: 68274 AN: 152110 Hom.: 17362 Cov.: 33 AF XY: 0.441 AC XY: 32808 AN XY: 74368

Gnomad4 AFR AF: 0.699

Gnomad4 AMR AF: 0.341

Gnomad4 ASJ AF: 0.472

Gnomad4 EAS AF: 0.249

Gnomad4 SAS AF: 0.349

Gnomad4 FIN AF: 0.321

Gnomad4 NFE AF: 0.364

Gnomad4 OTH AF: 0.446

Alfa AF: 0.436 Hom.: 2861

Bravo AF: 0.463

Asia WGS AF: 0.346 AC: 1204 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.87
Cadd	Benign	0.80
Dann	Benign	0.77

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

Other links and lift over

dbSNP: rs2282326; hg19: chr10-106020398;