rs1165205

Variant names:

• chr6-25870314-T-A
• rs1165205
• NM_001098486.2:c.-33-1894A>T

Your query was ambiguous. Multiple possible variants found:

• chr6-25870314-T-A
• chr6-25870314-T-C
• chr6-25870314-T-G

Variant summary

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

The NM_001098486.2(SLC17A3):​c.-33-1894A>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.641 in 151,880 control chromosomes in the GnomAD database, including 33,167 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 0.64 (33167 hom., cov: 31)
• Consequence: SLC17A3 NM_001098486.2 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.356
• Publications: 71 publications found

Genes affected

SLC17A3 (HGNC:10931): (solute carrier family 17 member 3) The protein encoded by this gene is a voltage-driven transporter that excretes intracellular urate and organic anions from the blood into renal tubule cells. Two transcript variants encoding different isoforms have been found for this gene. The longer isoform is a plasma membrane protein with transporter activity while the shorter isoform localizes to the endoplasmic reticulum. [provided by RefSeq, Aug 2012]

SLC17A3 Gene-Disease associations (from GenCC):

• uric acid concentration, serum, quantitative trait locus 4

  Inheritance: AD Classification: LIMITED Submitted by: PanelApp Australia

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.98).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.866 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_001098486.2. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	SLC17A3	NM_001098486.2	MANE Select	c.-33-1894A>T		intron	N/A	NP_001091956.1	O00476-2
	SLC17A3	NM_006632.4		c.-33-1894A>T		intron	N/A	NP_006623.2	O00476-1

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	SLC17A3	ENST00000397060.8	TSL:2 MANE Select	c.-33-1894A>T		intron	N/A	ENSP00000380250.4	O00476-2
	SLC17A3	ENST00000361703.10	TSL:1	c.-33-1894A>T		intron	N/A	ENSP00000355307.6	O00476-1
	SLC17A3	ENST00000861066.1		c.-33-1894A>T		intron	N/A	ENSP00000531125.1

Frequencies

GnomAD3 genomes AF: 0.641 AC: 97265 AN: 151762 Hom.: 33109 Cov.: 31

Gnomad AFR AF: 0.873

Gnomad AMI AF: 0.340

Gnomad AMR AF: 0.596

Gnomad ASJ AF: 0.444

Gnomad EAS AF: 0.825

Gnomad SAS AF: 0.494

Gnomad FIN AF: 0.588

Gnomad MID AF: 0.506

Gnomad NFE AF: 0.529

Gnomad OTH AF: 0.645

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

GnomAD4 genome AF: 0.641 AC: 97383 AN: 151880 Hom.: 33167 Cov.: 31 AF XY: 0.640 AC XY: 47516 AN XY: 74238

African (AFR) AF: 0.874 AC: 36245 AN: 41488

American (AMR) AF: 0.596 AC: 9086 AN: 15236

Ashkenazi Jewish (ASJ) AF: 0.444 AC: 1538 AN: 3464

East Asian (EAS) AF: 0.824 AC: 4234 AN: 5136

South Asian (SAS) AF: 0.494 AC: 2376 AN: 4814

European-Finnish (FIN) AF: 0.588 AC: 6222 AN: 10584

Middle Eastern (MID) AF: 0.503 AC: 148 AN: 294

European-Non Finnish (NFE) AF: 0.529 AC: 35868 AN: 67848

Other (OTH) AF: 0.644 AC: 1356 AN: 2104

Alfa AF: 0.552 Hom.: 13026

Bravo AF: 0.658

Asia WGS AF: 0.658 AC: 2290 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.98
CADD	Benign	3.1
DANN	Benign	0.73
PhyloP100		0.36
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: rs1165205; hg19: chr6-25870542;