rs1014290

Positions:

• chr4-10000237-G-A

Variant summary

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

The NM_020041.3(SLC2A9):​c.250-3296C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.721 in 152,078 control chromosomes in the GnomAD database, including 39,665 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 0.72 (39665 hom., cov: 33)
• Consequence: SLC2A9 NM_020041.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.160

Genes affected

SLC2A9 (HGNC:13446): (solute carrier family 2 member 9) This gene encodes a member of the SLC2A facilitative glucose transporter family. Members of this family play a significant role in maintaining glucose homeostasis. The encoded protein may play a role in the development and survival of chondrocytes in cartilage matrices. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

SLC2A9-AS1 (HGNC:):

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.752 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
SLC2A9	NM_020041.3	c.250-3296C>T		intron_variant		ENST00000264784.8	NP_064425.2
SLC2A9-AS1	NR_183861.1	n.412+1040G>A		intron_variant, non_coding_transcript_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
SLC2A9	ENST00000264784.8	c.250-3296C>T		intron_variant		1	NM_020041.3	ENSP00000264784	A2

Frequencies

GnomAD3 genomes AF: 0.721 AC: 109514 AN: 151960 Hom.: 39643 Cov.: 33

Gnomad AFR AF: 0.701

Gnomad AMI AF: 0.797

Gnomad AMR AF: 0.664

Gnomad ASJ AF: 0.671

Gnomad EAS AF: 0.594

Gnomad SAS AF: 0.679

Gnomad FIN AF: 0.735

Gnomad MID AF: 0.674

Gnomad NFE AF: 0.757

Gnomad OTH AF: 0.728

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

GnomAD4 genome AF: 0.721 AC: 109583 AN: 152078 Hom.: 39665 Cov.: 33 AF XY: 0.716 AC XY: 53239 AN XY: 74350

Gnomad4 AFR AF: 0.701

Gnomad4 AMR AF: 0.664

Gnomad4 ASJ AF: 0.671

Gnomad4 EAS AF: 0.595

Gnomad4 SAS AF: 0.678

Gnomad4 FIN AF: 0.735

Gnomad4 NFE AF: 0.757

Gnomad4 OTH AF: 0.727

Alfa AF: 0.744 Hom.: 55701

Bravo AF: 0.714

Asia WGS AF: 0.680 AC: 2366 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	1.4
DANN	Benign	0.64

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: rs1014290; hg19: chr4-10001861;