4-10042262-A-C

Position:

• chr4-10042262-A-C

Variant summary

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

The ENST00000506583.5(SLC2A9):​c.-175-1998T>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.43 in 152,064 control chromosomes in the GnomAD database, including 15,634 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 0.43 (15634 hom., cov: 33)
• Consequence: SLC2A9 ENST00000506583.5 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.131

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]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.569 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
SLC2A9	ENST00000506583.5	c.-175-1998T>G		intron_variant		5		ENSP00000422209	P2
SLC2A9	ENST00000513129.1	c.-41+12571T>G		intron_variant		3		ENSP00000426800

Frequencies

GnomAD3 genomes AF: 0.431 AC: 65438 AN: 151948 Hom.: 15629 Cov.: 33

Gnomad AFR AF: 0.211

Gnomad AMI AF: 0.696

Gnomad AMR AF: 0.403

Gnomad ASJ AF: 0.497

Gnomad EAS AF: 0.425

Gnomad SAS AF: 0.587

Gnomad FIN AF: 0.522

Gnomad MID AF: 0.430

Gnomad NFE AF: 0.538

Gnomad OTH AF: 0.447

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

GnomAD4 genome AF: 0.430 AC: 65452 AN: 152064 Hom.: 15634 Cov.: 33 AF XY: 0.431 AC XY: 32060 AN XY: 74356

Gnomad4 AFR AF: 0.211

Gnomad4 AMR AF: 0.403

Gnomad4 ASJ AF: 0.497

Gnomad4 EAS AF: 0.425

Gnomad4 SAS AF: 0.587

Gnomad4 FIN AF: 0.522

Gnomad4 NFE AF: 0.538

Gnomad4 OTH AF: 0.448

Alfa AF: 0.469 Hom.: 2237

Bravo AF: 0.410

Asia WGS AF: 0.509 AC: 1766 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	5.9
DANN	Benign	0.85

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Other links and lift over

dbSNP: rs62293415; hg19: chr4-10043886;