rs9391988

Variant names:

• chr6-3307629-G-A
• rs9391988
• NM_015482.2:c.1083-9411C>T

Variant summary

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

The NM_015482.2(SLC22A23):​c.1083-9411C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.235 in 152,110 control chromosomes in the GnomAD database, including 5,157 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 0.24 (5157 hom., cov: 33)
• Consequence: SLC22A23 NM_015482.2 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.349
• Publications: 4 publications found

Genes affected

SLC22A23 (HGNC:21106): (solute carrier family 22 member 23) SLC22A23 belongs to a large family of transmembrane proteins that function as uniporters, symporters, and antiporters to transport organic ions across cell membranes (Jacobsson et al., 2007 [PubMed 17714910]).[supplied by OMIM, Mar 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 (EAS) allele frequency at 95% confidence interval = 0.337 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_015482.2. 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
	SLC22A23	NM_015482.2	MANE Select	c.1083-9411C>T		intron	N/A	NP_056297.1
	SLC22A23	NM_001382317.1		c.1083-9411C>T		intron	N/A	NP_001369246.1
	SLC22A23	NM_001286455.1		c.240-9411C>T		intron	N/A	NP_001273384.1

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	SLC22A23	ENST00000406686.8	TSL:5 MANE Select	c.1083-9411C>T		intron	N/A	ENSP00000385028.3
	SLC22A23	ENST00000485307.5	TSL:1	c.567-9411C>T		intron	N/A	ENSP00000418134.1
	SLC22A23	ENST00000380302.8	TSL:1	c.240-9411C>T		intron	N/A	ENSP00000369657.4

Frequencies

GnomAD3 genomes AF: 0.236 AC: 35798 AN: 151994 Hom.: 5154 Cov.: 33

Gnomad AFR AF: 0.0626

Gnomad AMI AF: 0.301

Gnomad AMR AF: 0.248

Gnomad ASJ AF: 0.230

Gnomad EAS AF: 0.350

Gnomad SAS AF: 0.240

Gnomad FIN AF: 0.374

Gnomad MID AF: 0.310

Gnomad NFE AF: 0.307

Gnomad OTH AF: 0.244

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

GnomAD4 genome AF: 0.235 AC: 35798 AN: 152110 Hom.: 5157 Cov.: 33 AF XY: 0.240 AC XY: 17856 AN XY: 74346

African (AFR) AF: 0.0624 AC: 2592 AN: 41552

American (AMR) AF: 0.248 AC: 3790 AN: 15292

Ashkenazi Jewish (ASJ) AF: 0.230 AC: 797 AN: 3472

East Asian (EAS) AF: 0.350 AC: 1788 AN: 5104

South Asian (SAS) AF: 0.241 AC: 1160 AN: 4814

European-Finnish (FIN) AF: 0.374 AC: 3956 AN: 10580

Middle Eastern (MID) AF: 0.313 AC: 92 AN: 294

European-Non Finnish (NFE) AF: 0.307 AC: 20836 AN: 67980

Other (OTH) AF: 0.243 AC: 513 AN: 2112

Alfa AF: 0.258 Hom.: 1877

Bravo AF: 0.219

Asia WGS AF: 0.271 AC: 945 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	4.6
DANN	Benign	0.63
PhyloP100		-0.35
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: rs9391988; hg19: chr6-3307863;