rs7680126

Variant names:

• chr4-9983972-G-A
• rs7680126
• NM_020041.3:c.535+1697C>T

Your query was ambiguous. Multiple possible variants found:

• chr4-9983972-G-A
• chr4-9983972-G-C

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NM_020041.3(SLC2A9):​c.535+1697C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.802 in 152,130 control chromosomes in the GnomAD database, including 49,355 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 0.80 (49355 hom., cov: 31)
• Consequence: SLC2A9 NM_020041.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.28
• Publications: 13 publications found

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 Gene-Disease associations (from GenCC):

• hypouricemia, renal, 2

  Inheritance: AD, AR Classification: STRONG, MODERATE, LIMITED Submitted by: Ambry Genetics, Labcorp Genetics (formerly Invitae)
• hereditary renal hypouricemia

  Inheritance: AR Classification: SUPPORTIVE Submitted by: Orphanet

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.96 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_020041.3. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	SLC2A9	NM_020041.3	MANE Select	c.535+1697C>T		intron	N/A	NP_064425.2
	SLC2A9	NM_001001290.2		c.448+1697C>T		intron	N/A	NP_001001290.1

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	SLC2A9	ENST00000264784.8	TSL:1 MANE Select	c.535+1697C>T		intron	N/A	ENSP00000264784.3
	SLC2A9	ENST00000309065.7	TSL:1	c.448+1697C>T		intron	N/A	ENSP00000311383.3
	SLC2A9	ENST00000505104.5	TSL:1	n.569+1697C>T		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.802 AC: 121903 AN: 152012 Hom.: 49301 Cov.: 31

Gnomad AFR AF: 0.878

Gnomad AMI AF: 0.857

Gnomad AMR AF: 0.670

Gnomad ASJ AF: 0.707

Gnomad EAS AF: 0.982

Gnomad SAS AF: 0.744

Gnomad FIN AF: 0.817

Gnomad MID AF: 0.772

Gnomad NFE AF: 0.778

Gnomad OTH AF: 0.796

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

GnomAD4 genome AF: 0.802 AC: 122013 AN: 152130 Hom.: 49355 Cov.: 31 AF XY: 0.800 AC XY: 59495 AN XY: 74360

African (AFR) AF: 0.878 AC: 36449 AN: 41508

American (AMR) AF: 0.669 AC: 10214 AN: 15262

Ashkenazi Jewish (ASJ) AF: 0.707 AC: 2454 AN: 3470

East Asian (EAS) AF: 0.982 AC: 5081 AN: 5172

South Asian (SAS) AF: 0.744 AC: 3584 AN: 4818

European-Finnish (FIN) AF: 0.817 AC: 8652 AN: 10590

Middle Eastern (MID) AF: 0.776 AC: 228 AN: 294

European-Non Finnish (NFE) AF: 0.778 AC: 52883 AN: 67992

Other (OTH) AF: 0.798 AC: 1686 AN: 2112

Alfa AF: 0.789 Hom.: 84214

Bravo AF: 0.797

Asia WGS AF: 0.858 AC: 2983 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	0.17
DANN	Benign	0.72
PhyloP100		-1.3
Mutation Taster		=100/0	polymorphism (auto)

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

Other links and lift over

dbSNP: rs7680126; hg19: chr4-9985596;