rs7766568

Variant names:

• chr6-160142488-C-T
• rs7766568
• NM_003057.3:c.1277-1053C>T

Variant summary

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

The NM_003057.3(SLC22A1):​c.1277-1053C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0672 in 152,226 control chromosomes in the GnomAD database, including 431 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 0.067 (431 hom., cov: 32)
• Consequence: SLC22A1 NM_003057.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.428
• Publications: 5 publications found

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]

ENSG00000301636 (HGNC:):

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.94).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.109 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
SLC22A1	NM_003057.3	c.1277-1053C>T		intron_variant	Intron 7 of 10	ENST00000366963.9	NP_003048.1
SLC22A1	NM_153187.2	c.1277-1053C>T		intron_variant	Intron 7 of 9		NP_694857.1
SLC22A1	NM_001437335.1	c.1277-1053C>T		intron_variant	Intron 7 of 8		NP_001424264.1
SLC22A1	XM_005267103.3	c.1277-1053C>T		intron_variant	Intron 7 of 11		XP_005267160.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
SLC22A1	ENST00000366963.9	c.1277-1053C>T		intron_variant	Intron 7 of 10	1	NM_003057.3	ENSP00000355930.4

Frequencies

GnomAD3 genomes AF: 0.0672 AC: 10215 AN: 152108 Hom.: 431 Cov.: 32

Gnomad AFR AF: 0.111

Gnomad AMI AF: 0.0285

Gnomad AMR AF: 0.0677

Gnomad ASJ AF: 0.0818

Gnomad EAS AF: 0.0345

Gnomad SAS AF: 0.0629

Gnomad FIN AF: 0.0427

Gnomad MID AF: 0.0791

Gnomad NFE AF: 0.0463

Gnomad OTH AF: 0.0732

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

GnomAD4 genome AF: 0.0672 AC: 10222 AN: 152226 Hom.: 431 Cov.: 32 AF XY: 0.0668 AC XY: 4974 AN XY: 74434

African (AFR) AF: 0.111 AC: 4619 AN: 41490

American (AMR) AF: 0.0676 AC: 1035 AN: 15304

Ashkenazi Jewish (ASJ) AF: 0.0818 AC: 284 AN: 3472

East Asian (EAS) AF: 0.0342 AC: 177 AN: 5182

South Asian (SAS) AF: 0.0624 AC: 301 AN: 4826

European-Finnish (FIN) AF: 0.0427 AC: 453 AN: 10614

Middle Eastern (MID) AF: 0.0748 AC: 22 AN: 294

European-Non Finnish (NFE) AF: 0.0463 AC: 3146 AN: 68020

Other (OTH) AF: 0.0753 AC: 159 AN: 2112

Alfa AF: 0.0559 Hom.: 332

Bravo AF: 0.0712

Asia WGS AF: 0.0610 AC: 213 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
CADD	Benign	0.24
DANN	Benign	0.42
PhyloP100		-0.43
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: rs7766568; hg19: chr6-160563520;