rs6133175

Positions:

• chr20-4911113-A-G

Variant summary

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

The NM_005116.6(SLC23A2):​c.207+1767T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.291 in 152,034 control chromosomes in the GnomAD database, including 7,990 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 0.29 (7990 hom., cov: 31)
• Consequence: SLC23A2 NM_005116.6 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.56

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]

SLC23A2 (HGNC:):

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.87).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.618 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
SLC23A2	NM_005116.6	c.207+1767T>C		intron_variant		ENST00000338244.6	NP_005107.4
SLC23A2	NM_203327.2	c.207+1767T>C		intron_variant			NP_976072.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
SLC23A2	ENST00000338244.6	c.207+1767T>C		intron_variant		1	NM_005116.6	ENSP00000344322.1
SLC23A2	ENST00000379333.5	c.207+1767T>C		intron_variant		1		ENSP00000368637.1
SLC23A2	ENST00000468355.5	n.573+1767T>C		intron_variant		1

Frequencies

GnomAD3 genomes AF: 0.291 AC: 44216 AN: 151916 Hom.: 7984 Cov.: 31

Gnomad AFR AF: 0.0880

Gnomad AMI AF: 0.188

Gnomad AMR AF: 0.341

Gnomad ASJ AF: 0.296

Gnomad EAS AF: 0.637

Gnomad SAS AF: 0.350

Gnomad FIN AF: 0.481

Gnomad MID AF: 0.297

Gnomad NFE AF: 0.344

Gnomad OTH AF: 0.310

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

GnomAD4 genome AF: 0.291 AC: 44231 AN: 152034 Hom.: 7990 Cov.: 31 AF XY: 0.300 AC XY: 22295 AN XY: 74304

Gnomad4 AFR AF: 0.0879

Gnomad4 AMR AF: 0.342

Gnomad4 ASJ AF: 0.296

Gnomad4 EAS AF: 0.636

Gnomad4 SAS AF: 0.348

Gnomad4 FIN AF: 0.481

Gnomad4 NFE AF: 0.344

Gnomad4 OTH AF: 0.313

Alfa AF: 0.335 Hom.: 17628

Bravo AF: 0.275

Asia WGS AF: 0.489 AC: 1699 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.87
CADD	Benign	8.0
DANN	Benign	0.78

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: rs6133175; hg19: chr20-4891759;