rs7442295

Variant names:

• chr4-9964756-A-G
• rs7442295
• NM_020041.3:c.681+15836T>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.681+15836T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.275 in 152,134 control chromosomes in the GnomAD database, including 6,441 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as association (no stars).

• Frequency: Genomes: 𝑓 0.27 (6441 hom., cov: 32)
• Consequence: SLC2A9 NM_020041.3 intron
• Clinical Significance: association no assertion criteria provided O:1
• Conservation: PhyloP100: 0.995
• Publications: 70 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=-0.92).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.397 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
SLC2A9	NM_020041.3	c.681+15836T>C		intron_variant	Intron 5 of 11	ENST00000264784.8	NP_064425.2

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
SLC2A9	ENST00000264784.8	c.681+15836T>C		intron_variant	Intron 5 of 11	1	NM_020041.3	ENSP00000264784.3
SLC2A9	ENST00000309065.7	c.594+15836T>C		intron_variant	Intron 6 of 12	1		ENSP00000311383.3
SLC2A9	ENST00000505104.5	n.715+15836T>C		intron_variant	Intron 6 of 11	1
SLC2A9	ENST00000506583.5	c.594+15836T>C		intron_variant	Intron 7 of 13	5		ENSP00000422209.1

Frequencies

GnomAD3 genomes AF: 0.275 AC: 41739 AN: 152016 Hom.: 6429 Cov.: 32

Gnomad AFR AF: 0.402

Gnomad AMI AF: 0.141

Gnomad AMR AF: 0.355

Gnomad ASJ AF: 0.272

Gnomad EAS AF: 0.0190

Gnomad SAS AF: 0.256

Gnomad FIN AF: 0.183

Gnomad MID AF: 0.237

Gnomad NFE AF: 0.216

Gnomad OTH AF: 0.262

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

GnomAD4 genome AF: 0.275 AC: 41787 AN: 152134 Hom.: 6441 Cov.: 32 AF XY: 0.273 AC XY: 20336 AN XY: 74388

African (AFR) AF: 0.402 AC: 16682 AN: 41484

American (AMR) AF: 0.355 AC: 5434 AN: 15292

Ashkenazi Jewish (ASJ) AF: 0.272 AC: 943 AN: 3472

East Asian (EAS) AF: 0.0193 AC: 100 AN: 5186

South Asian (SAS) AF: 0.256 AC: 1232 AN: 4812

European-Finnish (FIN) AF: 0.183 AC: 1944 AN: 10596

Middle Eastern (MID) AF: 0.241 AC: 71 AN: 294

European-Non Finnish (NFE) AF: 0.216 AC: 14704 AN: 67974

Other (OTH) AF: 0.259 AC: 548 AN: 2112

Alfa AF: 0.232 Hom.: 17402

Bravo AF: 0.291

Asia WGS AF: 0.160 AC: 556 AN: 3478

ClinVar

Significance: association

Submissions summary: Other:1

Revision: no assertion criteria provided

Submissions by phenotype

Uric acid concentration, serum, quantitative trait locus 2 Other:1

Apr 01, 2008

OMIM

Significance: association

Review Status: no assertion criteria provided

Collection Method: literature only

- -

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	6.1
DANN	Benign	0.60
PhyloP100		0.99
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: rs7442295; hg19: chr4-9966380;