rs8126036

Variant names:

• chr20-4883297-T-C
• rs8126036
• NM_005116.6:c.824+345A>G

Variant summary

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

The NM_005116.6(SLC23A2):​c.824+345A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0608 in 152,186 control chromosomes in the GnomAD database, including 617 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 0.061 (617 hom., cov: 32)
• Consequence: SLC23A2 NM_005116.6 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.00900
• Publications: 0 publications found

Genes affected

SLC23A2 (HGNC:10973): (solute carrier family 23 member 2) The absorption of vitamin C into the body and its distribution to organs requires two sodium-dependent vitamin C transporters. This gene encodes one of the two required transporters and the encoded protein accounts for tissue-specific uptake of vitamin C. Previously, this gene had an official symbol of SLC23A1. [provided by RefSeq, Jul 2008]

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 (AFR) allele frequency at 95% confidence interval = 0.162 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
SLC23A2	NM_005116.6	c.824+345A>G		intron_variant	Intron 9 of 16	ENST00000338244.6	NP_005107.4
SLC23A2	NM_203327.2	c.824+345A>G		intron_variant	Intron 9 of 16		NP_976072.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
SLC23A2	ENST00000338244.6	c.824+345A>G		intron_variant	Intron 9 of 16	1	NM_005116.6	ENSP00000344322.1

Frequencies

GnomAD3 genomes AF: 0.0607 AC: 9230 AN: 152068 Hom.: 615 Cov.: 32

Gnomad AFR AF: 0.166

Gnomad AMI AF: 0.00768

Gnomad AMR AF: 0.0373

Gnomad ASJ AF: 0.0320

Gnomad EAS AF: 0.000385

Gnomad SAS AF: 0.0409

Gnomad FIN AF: 0.00631

Gnomad MID AF: 0.0633

Gnomad NFE AF: 0.0189

Gnomad OTH AF: 0.0545

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

GnomAD4 genome AF: 0.0608 AC: 9250 AN: 152186 Hom.: 617 Cov.: 32 AF XY: 0.0599 AC XY: 4456 AN XY: 74406

African (AFR) AF: 0.166 AC: 6876 AN: 41478

American (AMR) AF: 0.0372 AC: 569 AN: 15288

Ashkenazi Jewish (ASJ) AF: 0.0320 AC: 111 AN: 3470

East Asian (EAS) AF: 0.000386 AC: 2 AN: 5188

South Asian (SAS) AF: 0.0413 AC: 199 AN: 4816

European-Finnish (FIN) AF: 0.00631 AC: 67 AN: 10614

Middle Eastern (MID) AF: 0.0646 AC: 19 AN: 294

European-Non Finnish (NFE) AF: 0.0189 AC: 1286 AN: 68014

Other (OTH) AF: 0.0540 AC: 114 AN: 2112

Alfa AF: 0.0314 Hom.: 100

Bravo AF: 0.0659

Asia WGS AF: 0.0230 AC: 82 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.72
CADD	Benign	10
DANN	Benign	0.86
PhyloP100		-0.0090
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: rs8126036; hg19: chr20-4863943;