rs2547231

chr19-47881800-C-Achr19-47881800-C-Gchr19-47881800-C-T

Variant summary

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

The NM_003167.4(SULT2A1):c.472+284G>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.865 in 151,986 control chromosomes in the GnomAD database, including 56,999 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 0.86 (56999 hom., cov: 30)
• Consequence: SULT2A1 NM_003167.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.00300

Genes affected

SULT2A1 (HGNC:11458): (sulfotransferase family 2A member 1) This gene encodes a member of the sulfotransferase family. Sulfotransferases aid in the metabolism of drugs and endogenous compounds by converting these substances into more hydrophilic water-soluble sulfate conjugates that can be easily excreted. This protein catalyzes the sulfation of steroids and bile acids in the liver and adrenal glands, and may have a role in the inherited adrenal androgen excess in women with polycystic ovary syndrome. [provided by RefSeq, Mar 2010]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.98).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.974 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
SULT2A1	NM_003167.4	c.472+284G>T		intron_variant		ENST00000222002.4

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
SULT2A1	ENST00000222002.4	c.472+284G>T		intron_variant		1	NM_003167.4	P1

Frequencies

GnomAD3 genomes AF: 0.865 AC: 131317 AN: 151868 Hom.: 56943 Cov.: 30

Gnomad AFR AF: 0.905

Gnomad AMI AF: 0.831

Gnomad AMR AF: 0.904

Gnomad ASJ AF: 0.772

Gnomad EAS AF: 0.996

Gnomad SAS AF: 0.860

Gnomad FIN AF: 0.802

Gnomad MID AF: 0.861

Gnomad NFE AF: 0.837

Gnomad OTH AF: 0.852

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

GnomAD4 genome AF: 0.865 AC: 131433 AN: 151986 Hom.: 56999 Cov.: 30 AF XY: 0.865 AC XY: 64239 AN XY: 74252

Gnomad4 AFR AF: 0.905

Gnomad4 AMR AF: 0.905

Gnomad4 ASJ AF: 0.772

Gnomad4 EAS AF: 0.996

Gnomad4 SAS AF: 0.859

Gnomad4 FIN AF: 0.802

Gnomad4 NFE AF: 0.837

Gnomad4 OTH AF: 0.854

Alfa AF: 0.842 Hom.: 72160

Bravo AF: 0.874

Asia WGS AF: 0.934 AC: 3244 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.98
Cadd	Benign	2.2
Dann	Benign	0.62

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: rs2547231; hg19: chr19-48385057;