6-3328219-C-T

Variant names:

• chr6-3328219-C-T
• rs4128536
• NM_015482.2:c.914-4217G>A

Variant summary

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

The NM_015482.2(SLC22A23):​c.914-4217G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.134 in 151,348 control chromosomes in the GnomAD database, including 1,502 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 0.13 (1502 hom., cov: 31)
• Consequence: SLC22A23 NM_015482.2 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.15
• Publications: 2 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=-0.9).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.233 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

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	SLC22A23	NM_015482.2	MANE Select	c.914-4217G>A		intron	N/A	NP_056297.1	A1A5C7-1
	SLC22A23	NM_001382317.1		c.914-4217G>A		intron	N/A	NP_001369246.1
	SLC22A23	NM_001286455.1		c.71-4217G>A		intron	N/A	NP_001273384.1	A1A5C7-2

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	SLC22A23	ENST00000406686.8	TSL:5 MANE Select	c.914-4217G>A		intron	N/A	ENSP00000385028.3	A1A5C7-1
	SLC22A23	ENST00000485307.5	TSL:1	c.398-4217G>A		intron	N/A	ENSP00000418134.1	H7C4T9
	SLC22A23	ENST00000380302.8	TSL:1	c.71-4217G>A		intron	N/A	ENSP00000369657.4	A1A5C7-2

Frequencies

GnomAD3 genomes AF: 0.134 AC: 20223 AN: 151230 Hom.: 1501 Cov.: 31

Gnomad AFR AF: 0.173

Gnomad AMI AF: 0.160

Gnomad AMR AF: 0.103

Gnomad ASJ AF: 0.124

Gnomad EAS AF: 0.231

Gnomad SAS AF: 0.245

Gnomad FIN AF: 0.0636

Gnomad MID AF: 0.133

Gnomad NFE AF: 0.112

Gnomad OTH AF: 0.142

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

GnomAD4 genome AF: 0.134 AC: 20254 AN: 151348 Hom.: 1502 Cov.: 31 AF XY: 0.134 AC XY: 9920 AN XY: 73890

African (AFR) AF: 0.173 AC: 7133 AN: 41158

American (AMR) AF: 0.103 AC: 1551 AN: 15128

Ashkenazi Jewish (ASJ) AF: 0.124 AC: 429 AN: 3470

East Asian (EAS) AF: 0.231 AC: 1194 AN: 5158

South Asian (SAS) AF: 0.245 AC: 1158 AN: 4734

European-Finnish (FIN) AF: 0.0636 AC: 665 AN: 10464

Middle Eastern (MID) AF: 0.143 AC: 42 AN: 294

European-Non Finnish (NFE) AF: 0.112 AC: 7640 AN: 67930

Other (OTH) AF: 0.141 AC: 296 AN: 2100

Alfa AF: 0.0413 Hom.: 30

Bravo AF: 0.137

Asia WGS AF: 0.210 AC: 727 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	0.13
DANN	Benign	0.64
PhyloP100		-2.2
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

MaxEntScan Visualizer can be used to analyze the impact of this mutation on the neighboring sequence.

Other links and lift over

dbSNP: rs4128536;

hg19: chr6-3328453;