rs12004882

Variant names:

• chr9-84323144-C-G
• rs12004882
• NM_001199633.2:c.61-9690G>C

Variant summary

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

The NM_001199633.2(SLC28A3):​c.61-9690G>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.159 in 152,170 control chromosomes in the GnomAD database, including 2,502 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 0.16 (2502 hom., cov: 32)
• Consequence: SLC28A3 NM_001199633.2 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.35
• Publications: 3 publications found

Genes affected

SLC28A3 (HGNC:16484): (solute carrier family 28 member 3) Nucleoside transporters, such as SLC28A3, regulate multiple cellular processes, including neurotransmission, vascular tone, adenosine concentration in the vicinity of cell surface receptors, and transport and metabolism of nucleoside drugs. SLC28A3 shows broad specificity for pyrimidine and purine nucleosides (Ritzel et al., 2001 [PubMed 11032837]).[supplied by OMIM, Mar 2008]

ENSG00000285987 (HGNC:):

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.86).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.308 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_001199633.2. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	SLC28A3	NM_001199633.2	MANE Select	c.61-9690G>C		intron	N/A	NP_001186562.1
	SLC28A3	NM_022127.3		c.61-9690G>C		intron	N/A	NP_071410.1
	SLC28A3	NR_037638.3		n.186-9690G>C		intron	N/A

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	SLC28A3	ENST00000376238.5	TSL:1 MANE Select	c.61-9690G>C		intron	N/A	ENSP00000365413.4
	SLC28A3	ENST00000495823.1	TSL:3	n.87-9690G>C		intron	N/A
	ENSG00000285987	ENST00000650453.1		n.536+6095C>G		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.159 AC: 24195 AN: 152052 Hom.: 2487 Cov.: 32

Gnomad AFR AF: 0.0446

Gnomad AMI AF: 0.490

Gnomad AMR AF: 0.159

Gnomad ASJ AF: 0.138

Gnomad EAS AF: 0.319

Gnomad SAS AF: 0.264

Gnomad FIN AF: 0.235

Gnomad MID AF: 0.155

Gnomad NFE AF: 0.194

Gnomad OTH AF: 0.170

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

GnomAD4 genome AF: 0.159 AC: 24216 AN: 152170 Hom.: 2502 Cov.: 32 AF XY: 0.163 AC XY: 12151 AN XY: 74396

African (AFR) AF: 0.0445 AC: 1848 AN: 41558

American (AMR) AF: 0.159 AC: 2433 AN: 15282

Ashkenazi Jewish (ASJ) AF: 0.138 AC: 480 AN: 3472

East Asian (EAS) AF: 0.320 AC: 1654 AN: 5162

South Asian (SAS) AF: 0.264 AC: 1271 AN: 4816

European-Finnish (FIN) AF: 0.235 AC: 2488 AN: 10588

Middle Eastern (MID) AF: 0.153 AC: 45 AN: 294

European-Non Finnish (NFE) AF: 0.194 AC: 13174 AN: 67976

Other (OTH) AF: 0.179 AC: 379 AN: 2116

Alfa AF: 0.170 Hom.: 314

Bravo AF: 0.146

Asia WGS AF: 0.324 AC: 1124 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.86
CADD	Benign	0.42
DANN	Benign	0.35
PhyloP100		-1.3
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: rs12004882; hg19: chr9-86938059;