rs7750592

Positions:

• chr6-160148750-T-C
• chr6-160148750-T-G

Variant summary

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

The NM_003057.3(SLC22A1):​c.1385+5101T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.433 in 151,668 control chromosomes in the GnomAD database, including 14,597 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 0.43 (14597 hom., cov: 30)
• Consequence: SLC22A1 NM_003057.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -4.69

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 (AFR) allele frequency at 95% confidence interval = 0.521 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
SLC22A1	NM_003057.3	c.1385+5101T>C		intron_variant		ENST00000366963.9	NP_003048.1
SLC22A1	NM_153187.2	c.1385+5101T>C		intron_variant			NP_694857.1
SLC22A1	XM_005267103.3	c.1385+5101T>C		intron_variant			XP_005267160.1
SLC22A1	XM_006715552.3	c.1385+5101T>C		intron_variant			XP_006715615.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
SLC22A1	ENST00000366963.9	c.1385+5101T>C		intron_variant		1	NM_003057.3	ENSP00000355930	P1

Frequencies

GnomAD3 genomes AF: 0.433 AC: 65638 AN: 151552 Hom.: 14577 Cov.: 30

Gnomad AFR AF: 0.527

Gnomad AMI AF: 0.629

Gnomad AMR AF: 0.322

Gnomad ASJ AF: 0.541

Gnomad EAS AF: 0.337

Gnomad SAS AF: 0.385

Gnomad FIN AF: 0.392

Gnomad MID AF: 0.535

Gnomad NFE AF: 0.409

Gnomad OTH AF: 0.444

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

GnomAD4 genome AF: 0.433 AC: 65706 AN: 151668 Hom.: 14597 Cov.: 30 AF XY: 0.429 AC XY: 31766 AN XY: 74114

Gnomad4 AFR AF: 0.527

Gnomad4 AMR AF: 0.322

Gnomad4 ASJ AF: 0.541

Gnomad4 EAS AF: 0.338

Gnomad4 SAS AF: 0.386

Gnomad4 FIN AF: 0.392

Gnomad4 NFE AF: 0.409

Gnomad4 OTH AF: 0.441

Alfa AF: 0.271 Hom.: 605

Bravo AF: 0.440

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.18
DANN	Benign	0.57

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: rs7750592; hg19: chr6-160569782;