6-160397231-C-T

Variant names:

• chr6-160397231-C-T
• rs1510225
• NM_021977.4:c.430-748C>T

Variant summary

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

The NM_021977.4(SLC22A3):​c.430-748C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.25 in 151,894 control chromosomes in the GnomAD database, including 5,076 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 0.25 (5076 hom., cov: 30)
• Consequence: SLC22A3 NM_021977.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.19
• Publications: 8 publications found

Genes affected

SLC22A3 (HGNC:10967): (solute carrier family 22 member 3) Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. This gene is one of three similar cation transporter genes located in a cluster on chromosome 6. The encoded protein contains twelve putative transmembrane domains and is a plasma integral membrane protein. [provided by RefSeq, Jul 2008]

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.358 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_021977.4. 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
	SLC22A3	NM_021977.4	MANE Select	c.430-748C>T		intron	N/A	NP_068812.1

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	SLC22A3	ENST00000275300.3	TSL:1 MANE Select	c.430-748C>T		intron	N/A	ENSP00000275300.2
	SLC22A3	ENST00000855214.1		c.430-748C>T		intron	N/A	ENSP00000525273.1
	SLC22A3	ENST00000855213.1		c.430-39549C>T		intron	N/A	ENSP00000525272.1

Frequencies

GnomAD3 genomes AF: 0.250 AC: 37920 AN: 151776 Hom.: 5073 Cov.: 30

Gnomad AFR AF: 0.165

Gnomad AMI AF: 0.197

Gnomad AMR AF: 0.196

Gnomad ASJ AF: 0.352

Gnomad EAS AF: 0.371

Gnomad SAS AF: 0.372

Gnomad FIN AF: 0.292

Gnomad MID AF: 0.263

Gnomad NFE AF: 0.284

Gnomad OTH AF: 0.270

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

GnomAD4 genome AF: 0.250 AC: 37939 AN: 151894 Hom.: 5076 Cov.: 30 AF XY: 0.253 AC XY: 18750 AN XY: 74214

African (AFR) AF: 0.165 AC: 6847 AN: 41430

American (AMR) AF: 0.196 AC: 2996 AN: 15278

Ashkenazi Jewish (ASJ) AF: 0.352 AC: 1221 AN: 3466

East Asian (EAS) AF: 0.371 AC: 1907 AN: 5136

South Asian (SAS) AF: 0.372 AC: 1786 AN: 4800

European-Finnish (FIN) AF: 0.292 AC: 3073 AN: 10528

Middle Eastern (MID) AF: 0.269 AC: 79 AN: 294

European-Non Finnish (NFE) AF: 0.284 AC: 19282 AN: 67946

Other (OTH) AF: 0.270 AC: 569 AN: 2106

Alfa AF: 0.262 Hom.: 7274

Bravo AF: 0.239

Asia WGS AF: 0.357 AC: 1241 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	0.11
DANN	Benign	0.71
PhyloP100		-1.2
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: rs1510225; hg19: chr6-160818263;