rs762803

Variant names:

• chr11-67584785-C-A
• rs762803
• NM_000852.4:c.232+13C>A

Your query was ambiguous. Multiple possible variants found:

• chr11-67584785-C-A
• chr11-67584785-C-T

Variant summary

Our verdict is Benign. The variant received -20 ACMG points: 0P and 20B. BP4_Strong BP6_Very_Strong BA1

The NM_000852.4(GSTP1):​c.232+13C>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.404 in 1,586,772 control chromosomes in the GnomAD database, including 134,514 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).

• Frequency:
  • Genomes: 𝑓 0.38 (11286 hom., cov: 33)
  • Exomes 𝑓: 0.41 (123228 hom.)
• Consequence: GSTP1 NM_000852.4 intron
• Clinical Significance: Benign criteria provided, multiple submitters, no conflicts B:2
• Conservation: PhyloP100: 0.0150
• Publications: 39 publications found

Genes affected

GSTP1 (HGNC:4638): (glutathione S-transferase pi 1) Glutathione S-transferases (GSTs) are a family of enzymes that play an important role in detoxification by catalyzing the conjugation of many hydrophobic and electrophilic compounds with reduced glutathione. Based on their biochemical, immunologic, and structural properties, the soluble GSTs are categorized into 4 main classes: alpha, mu, pi, and theta. This GST family member is a polymorphic gene encoding active, functionally different GSTP1 variant proteins that are thought to function in xenobiotic metabolism and play a role in susceptibility to cancer, and other diseases. [provided by RefSeq, Jul 2008]

ACMG classification

Our verdict: Benign. The variant received -20 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.83).
• BP6: Variant 11-67584785-C-A is Benign according to our data. Variant chr11-67584785-C-A is described in ClinVar as Benign. ClinVar VariationId is 1297979.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars.
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.425 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
GSTP1	NM_000852.4	c.232+13C>A		intron_variant	Intron 4 of 6	ENST00000398606.10	NP_000843.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
GSTP1	ENST00000398606.10	c.232+13C>A		intron_variant	Intron 4 of 6	1	NM_000852.4	ENSP00000381607.3

Frequencies

GnomAD3 genomes AF: 0.377 AC: 57339 AN: 151892 Hom.: 11284 Cov.: 33

Gnomad AFR AF: 0.391

Gnomad AMI AF: 0.415

Gnomad AMR AF: 0.277

Gnomad ASJ AF: 0.260

Gnomad EAS AF: 0.157

Gnomad SAS AF: 0.297

Gnomad FIN AF: 0.319

Gnomad MID AF: 0.339

Gnomad NFE AF: 0.429

Gnomad OTH AF: 0.375

GnomAD2 exomes AF: 0.343 AC: 84038 AN: 245268 AF XY: 0.349

Gnomad AFR exome AF: 0.395

Gnomad AMR exome AF: 0.219

Gnomad ASJ exome AF: 0.255

Gnomad EAS exome AF: 0.156

Gnomad FIN exome AF: 0.333

Gnomad NFE exome AF: 0.421

Gnomad OTH exome AF: 0.367

GnomAD4 exome AF: 0.407 AC: 583959 AN: 1434762 Hom.: 123228 Cov.: 28 AF XY: 0.405 AC XY: 289469 AN XY: 715478

African (AFR) AF: 0.390 AC: 12828 AN: 32916

American (AMR) AF: 0.225 AC: 10066 AN: 44684

Ashkenazi Jewish (ASJ) AF: 0.259 AC: 6726 AN: 25970

East Asian (EAS) AF: 0.154 AC: 6079 AN: 39564

South Asian (SAS) AF: 0.316 AC: 27103 AN: 85760

European-Finnish (FIN) AF: 0.341 AC: 17964 AN: 52728

Middle Eastern (MID) AF: 0.373 AC: 2133 AN: 5718

European-Non Finnish (NFE) AF: 0.439 AC: 478015 AN: 1087928

Other (OTH) AF: 0.387 AC: 23045 AN: 59494

GnomAD4 genome AF: 0.377 AC: 57364 AN: 152010 Hom.: 11286 Cov.: 33 AF XY: 0.366 AC XY: 27206 AN XY: 74320

African (AFR) AF: 0.391 AC: 16198 AN: 41472

American (AMR) AF: 0.277 AC: 4231 AN: 15274

Ashkenazi Jewish (ASJ) AF: 0.260 AC: 901 AN: 3466

East Asian (EAS) AF: 0.156 AC: 808 AN: 5170

South Asian (SAS) AF: 0.295 AC: 1423 AN: 4816

European-Finnish (FIN) AF: 0.319 AC: 3375 AN: 10582

Middle Eastern (MID) AF: 0.330 AC: 97 AN: 294

European-Non Finnish (NFE) AF: 0.429 AC: 29170 AN: 67920

Other (OTH) AF: 0.372 AC: 785 AN: 2110

Alfa AF: 0.353 Hom.: 3945

Bravo AF: 0.375

Asia WGS AF: 0.254 AC: 887 AN: 3478

ClinVar

Significance: Benign

Submissions summary: Benign:2

Revision: criteria provided, multiple submitters, no conflicts

Submissions by phenotype

not provided Benign:2

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Breakthrough Genomics, Breakthrough Genomics

Significance: Benign

Review Status: criteria provided, single submitter

Collection Method: not provided

- -

Jun 19, 2021

GeneDx

Significance: Benign

Review Status: criteria provided, single submitter

Collection Method: clinical testing

- -

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.83
CADD	Benign	4.7
DANN	Benign	0.71
PhyloP100		0.015
RBP_binding_hub_radar		0.0
RBP_regulation_power_radar		1.0

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

Other links and lift over

dbSNP: rs762803; hg19: chr11-67352256; COSMIC: COSV66992242; COSMIC: COSV66992242;