chr15-92008799-T-C

Variant names:

• chr15-92008799-T-C
• rs7495052
• NM_013272.4:c.647-86082T>C

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NM_013272.4(SLCO3A1):​c.647-86082T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.399 in 152,074 control chromosomes in the GnomAD database, including 12,724 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 0.40 (12724 hom., cov: 33)
• Consequence: SLCO3A1 NM_013272.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.67
• Publications: 13 publications found

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

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.724 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_013272.4. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	SLCO3A1	NM_013272.4	MANE Select	c.647-86082T>C		intron	N/A	NP_037404.2
	SLCO3A1	NM_001145044.1		c.647-86082T>C		intron	N/A	NP_001138516.1
	SLCO3A1	NR_135775.2		n.574-86082T>C		intron	N/A

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	SLCO3A1	ENST00000318445.11	TSL:1 MANE Select	c.647-86082T>C		intron	N/A	ENSP00000320634.6
	SLCO3A1	ENST00000424469.2	TSL:1	c.647-86082T>C		intron	N/A	ENSP00000387846.2
	SLCO3A1	ENST00000555769.5	TSL:1	n.542-86082T>C		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.399 AC: 60574 AN: 151956 Hom.: 12721 Cov.: 33

Gnomad AFR AF: 0.305

Gnomad AMI AF: 0.425

Gnomad AMR AF: 0.426

Gnomad ASJ AF: 0.428

Gnomad EAS AF: 0.744

Gnomad SAS AF: 0.495

Gnomad FIN AF: 0.404

Gnomad MID AF: 0.487

Gnomad NFE AF: 0.413

Gnomad OTH AF: 0.414

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

GnomAD4 genome AF: 0.399 AC: 60610 AN: 152074 Hom.: 12724 Cov.: 33 AF XY: 0.403 AC XY: 29994 AN XY: 74344

African (AFR) AF: 0.305 AC: 12654 AN: 41450

American (AMR) AF: 0.426 AC: 6519 AN: 15288

Ashkenazi Jewish (ASJ) AF: 0.428 AC: 1485 AN: 3470

East Asian (EAS) AF: 0.744 AC: 3843 AN: 5166

South Asian (SAS) AF: 0.495 AC: 2381 AN: 4814

European-Finnish (FIN) AF: 0.404 AC: 4270 AN: 10570

Middle Eastern (MID) AF: 0.480 AC: 141 AN: 294

European-Non Finnish (NFE) AF: 0.413 AC: 28057 AN: 67998

Other (OTH) AF: 0.413 AC: 873 AN: 2114

Alfa AF: 0.411 Hom.: 31116

Bravo AF: 0.397

Asia WGS AF: 0.578 AC: 2009 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	0.046
DANN	Benign	0.22
PhyloP100		-2.7
Mutation Taster		=100/0	polymorphism (auto)

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: rs7495052; hg19: chr15-92552029;