rs3733588

chr4-9995679-G-Achr4-9995679-G-Cchr4-9995679-G-T

Variant summary

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

The NM_020041.3(SLC2A9):c.410+1102C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.716 in 152,088 control chromosomes in the GnomAD database, including 39,243 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 (39238 hom., cov: 32)
  • Exomes 𝑓: 1.0 (5 hom.)
• Consequence: SLC2A9 NM_020041.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.406

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=-0.96).
• 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	UniProt
SLC2A9	NM_020041.3	c.410+1102C>T		intron_variant		ENST00000264784.8
SLC2A9-AS1	NR_183861.1	n.307+1154G>A		intron_variant, non_coding_transcript_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
SLC2A9	ENST00000264784.8	c.410+1102C>T		intron_variant		1	NM_020041.3	A2

Frequencies

GnomAD3 genomes AF: 0.717 AC: 108897 AN: 151960 Hom.: 39222 Cov.: 32

Gnomad AFR AF: 0.688

Gnomad AMI AF: 0.799

Gnomad AMR AF: 0.662

Gnomad ASJ AF: 0.671

Gnomad EAS AF: 0.584

Gnomad SAS AF: 0.679

Gnomad FIN AF: 0.735

Gnomad MID AF: 0.671

Gnomad NFE AF: 0.757

Gnomad OTH AF: 0.725

GnomAD4 exome AF: 1.00 AC: 10 AN: 10 Hom.: 5 Cov.: 0 AF XY: 1.00 AC XY: 6 AN XY: 6

Gnomad4 NFE exome AF: 1.00

Gnomad4 OTH exome AF: 1.00

GnomAD4 genome AF: 0.716 AC: 108955 AN: 152078 Hom.: 39238 Cov.: 32 AF XY: 0.712 AC XY: 52928 AN XY: 74334

Gnomad4 AFR AF: 0.688

Gnomad4 AMR AF: 0.662

Gnomad4 ASJ AF: 0.671

Gnomad4 EAS AF: 0.585

Gnomad4 SAS AF: 0.679

Gnomad4 FIN AF: 0.735

Gnomad4 NFE AF: 0.757

Gnomad4 OTH AF: 0.724

Alfa AF: 0.723 Hom.: 8032

Bravo AF: 0.710

Asia WGS AF: 0.673 AC: 2341 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
Cadd	Benign	0.79
Dann	Benign	0.67

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: rs3733588; hg19: chr4-9997303;