rs2048945

chr15-92099171-A-T

Variant summary

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

The NM_013272.4(SLCO3A1):c.745+4192A>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.367 in 152,166 control chromosomes in the GnomAD database, including 10,491 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 0.37 (10491 hom., cov: 33)
• Consequence: SLCO3A1 NM_013272.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0720

Genes affected

SLCO3A1 (HGNC:10952): (solute carrier organic anion transporter family member 3A1) Predicted to enable sodium-independent organic anion transmembrane transporter activity. Involved in positive regulation of NF-kappaB transcription factor activity; positive regulation of protein phosphorylation; and prostaglandin transport. Located in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.8).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.419 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
SLCO3A1	NM_013272.4	c.745+4192A>T		intron_variant		ENST00000318445.11
SLCO3A1	NM_001145044.1	c.745+4192A>T		intron_variant
SLCO3A1	NR_135775.2	n.672+4192A>T		intron_variant, non_coding_transcript_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
SLCO3A1	ENST00000318445.11	c.745+4192A>T		intron_variant		1	NM_013272.4	P1

Frequencies

GnomAD3 genomes AF: 0.367 AC: 55792 AN: 152048 Hom.: 10472 Cov.: 33

Gnomad AFR AF: 0.308

Gnomad AMI AF: 0.338

Gnomad AMR AF: 0.427

Gnomad ASJ AF: 0.534

Gnomad EAS AF: 0.379

Gnomad SAS AF: 0.380

Gnomad FIN AF: 0.320

Gnomad MID AF: 0.395

Gnomad NFE AF: 0.386

Gnomad OTH AF: 0.386

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

GnomAD4 genome AF: 0.367 AC: 55848 AN: 152166 Hom.: 10491 Cov.: 33 AF XY: 0.367 AC XY: 27317 AN XY: 74390

Gnomad4 AFR AF: 0.308

Gnomad4 AMR AF: 0.427

Gnomad4 ASJ AF: 0.534

Gnomad4 EAS AF: 0.380

Gnomad4 SAS AF: 0.381

Gnomad4 FIN AF: 0.320

Gnomad4 NFE AF: 0.386

Gnomad4 OTH AF: 0.391

Alfa AF: 0.374 Hom.: 1316

Bravo AF: 0.370

Asia WGS AF: 0.393 AC: 1366 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.80
Cadd	Benign	6.5
Dann	Benign	0.87

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: rs2048945; hg19: chr15-92642401;