4-9993558-G-C

Variant summary

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

The NM_020041.3(SLC2A9):c.410+3223C>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.707 in 151,950 control chromosomes in the GnomAD database, including 38,215 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 0.71 (38215 hom., cov: 31)
• Consequence: SLC2A9 NM_020041.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.103

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=-1.01).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.749 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
SLC2A9	NM_020041.3	c.410+3223C>G		intron_variant		ENST00000264784.8
SLC2A9-AS1	NR_183861.1	n.142+184G>C		intron_variant, non_coding_transcript_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
SLC2A9	ENST00000264784.8	c.410+3223C>G		intron_variant		1	NM_020041.3	A2

Frequencies

GnomAD3 genomes AF: 0.707 AC: 107421 AN: 151832 Hom.: 38202 Cov.: 31

Gnomad AFR AF: 0.663

Gnomad AMI AF: 0.799

Gnomad AMR AF: 0.654

Gnomad ASJ AF: 0.668

Gnomad EAS AF: 0.584

Gnomad SAS AF: 0.673

Gnomad FIN AF: 0.737

Gnomad MID AF: 0.668

Gnomad NFE AF: 0.755

Gnomad OTH AF: 0.716

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

GnomAD4 genome AF: 0.707 AC: 107474 AN: 151950 Hom.: 38215 Cov.: 31 AF XY: 0.703 AC XY: 52201 AN XY: 74232

Gnomad4 AFR AF: 0.662

Gnomad4 AMR AF: 0.653

Gnomad4 ASJ AF: 0.668

Gnomad4 EAS AF: 0.585

Gnomad4 SAS AF: 0.672

Gnomad4 FIN AF: 0.737

Gnomad4 NFE AF: 0.755

Gnomad4 OTH AF: 0.715

Alfa AF: 0.727 Hom.: 19699

Bravo AF: 0.699

Asia WGS AF: 0.669 AC: 2328 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
Cadd	Benign	1.5
Dann	Benign	0.28

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: rs3775948; hg19: chr4-9995182;