18-45607165-A-G

Variant names:

• chr18-45607165-A-G
• rs7227483
• NM_001242692.2:c.-34-17466A>G

Variant summary

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

The NM_001242692.2(SLC14A2):​c.-34-17466A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.698 in 152,038 control chromosomes in the GnomAD database, including 37,398 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 (37398 hom., cov: 31)
• Consequence: SLC14A2 NM_001242692.2 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.722
• Publications: 12 publications found

Genes affected

SLC14A2 (HGNC:10919): (solute carrier family 14 member 2) The protein encoded by this gene belongs to the urea transporter family. In mammalian cells, urea is the chief end product of nitrogen catabolism, and plays an important role in the urinary concentration mechanism. This protein is expressed in the inner medulla of the kidney, and mediates rapid transepithelial urea transport across the inner medullary collecting duct. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2011]

LOC105372093 (HGNC:):

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.72).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.825 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_001242692.2. 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
	SLC14A2	NM_001242692.2		c.-34-17466A>G		intron	N/A	NP_001229621.1	Q15849-1
	SLC14A2	NM_001371319.1		c.-34-17466A>G		intron	N/A	NP_001358248.1	Q15849-1

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	SLC14A2	ENST00000586448.5	TSL:2	c.-34-17466A>G		intron	N/A	ENSP00000465953.1	Q15849-1
	ENSG00000287943	ENST00000658918.1		n.76+4300T>C		intron	N/A
	ENSG00000287943	ENST00000729208.1		n.278+4326T>C		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.698 AC: 106086 AN: 151920 Hom.: 37370 Cov.: 31

Gnomad AFR AF: 0.638

Gnomad AMI AF: 0.753

Gnomad AMR AF: 0.738

Gnomad ASJ AF: 0.647

Gnomad EAS AF: 0.847

Gnomad SAS AF: 0.796

Gnomad FIN AF: 0.660

Gnomad MID AF: 0.662

Gnomad NFE AF: 0.716

Gnomad OTH AF: 0.692

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

GnomAD4 genome AF: 0.698 AC: 106165 AN: 152038 Hom.: 37398 Cov.: 31 AF XY: 0.699 AC XY: 51978 AN XY: 74318

African (AFR) AF: 0.638 AC: 26457 AN: 41438

American (AMR) AF: 0.737 AC: 11262 AN: 15274

Ashkenazi Jewish (ASJ) AF: 0.647 AC: 2246 AN: 3470

East Asian (EAS) AF: 0.846 AC: 4382 AN: 5178

South Asian (SAS) AF: 0.797 AC: 3835 AN: 4814

European-Finnish (FIN) AF: 0.660 AC: 6968 AN: 10562

Middle Eastern (MID) AF: 0.661 AC: 193 AN: 292

European-Non Finnish (NFE) AF: 0.716 AC: 48670 AN: 67994

Other (OTH) AF: 0.696 AC: 1465 AN: 2104

Alfa AF: 0.711 Hom.: 90725

Bravo AF: 0.699

Asia WGS AF: 0.792 AC: 2755 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.72
CADD	Benign	7.2
DANN	Benign	0.79
PhyloP100		0.72
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: rs7227483; hg19: chr18-43187130;