rs622342

Positions:

• chr6-160151834-C-A
• chr6-160151834-C-G

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NM_003057.3(SLC22A1):​c.1386-2964C>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.701 in 152,082 control chromosomes in the GnomAD database, including 37,841 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 0.70 (37841 hom., cov: 32)
• Consequence: SLC22A1 NM_003057.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.390

Genes affected

SLC22A1 (HGNC:10963): (solute carrier family 22 member 1) 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. Two transcript variants encoding two different isoforms have been found for this gene, but only the longer variant encodes a functional transporter. [provided by RefSeq, Jul 2008]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.02).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.821 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
SLC22A1	NM_003057.3	c.1386-2964C>A		intron_variant		ENST00000366963.9	NP_003048.1
SLC22A1	NM_153187.2	c.1386-4141C>A		intron_variant			NP_694857.1
SLC22A1	XM_005267103.3	c.1386-2964C>A		intron_variant			XP_005267160.1
SLC22A1	XM_006715552.3	c.1386-6682C>A		intron_variant			XP_006715615.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
SLC22A1	ENST00000366963.9	c.1386-2964C>A		intron_variant		1	NM_003057.3	ENSP00000355930	P1

Frequencies

GnomAD3 genomes AF: 0.701 AC: 106459 AN: 151964 Hom.: 37808 Cov.: 32

Gnomad AFR AF: 0.811

Gnomad AMI AF: 0.809

Gnomad AMR AF: 0.648

Gnomad ASJ AF: 0.755

Gnomad EAS AF: 0.842

Gnomad SAS AF: 0.747

Gnomad FIN AF: 0.673

Gnomad MID AF: 0.778

Gnomad NFE AF: 0.630

Gnomad OTH AF: 0.718

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

GnomAD4 genome AF: 0.701 AC: 106549 AN: 152082 Hom.: 37841 Cov.: 32 AF XY: 0.703 AC XY: 52262 AN XY: 74346

Gnomad4 AFR AF: 0.811

Gnomad4 AMR AF: 0.647

Gnomad4 ASJ AF: 0.755

Gnomad4 EAS AF: 0.841

Gnomad4 SAS AF: 0.748

Gnomad4 FIN AF: 0.673

Gnomad4 NFE AF: 0.630

Gnomad4 OTH AF: 0.718

Alfa AF: 0.652 Hom.: 52920

Bravo AF: 0.705

Asia WGS AF: 0.810 AC: 2815 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.32
DANN	Benign	0.15

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

Publications

LitVar

Other links and lift over

dbSNP: rs622342; hg19: chr6-160572866;