4-9937581-G-A

Variant names:

• chr4-9937581-G-A
• rs938558
• NM_020041.3:c.814+4332C>T

Variant summary

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

The NM_020041.3(SLC2A9):​c.814+4332C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.608 in 152,030 control chromosomes in the GnomAD database, including 29,435 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 0.61 (29435 hom., cov: 32)
• Consequence: SLC2A9 NM_020041.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.663
• Publications: 6 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=-0.94).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.718 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
SLC2A9	NM_020041.3	c.814+4332C>T		intron_variant	Intron 6 of 11	ENST00000264784.8	NP_064425.2

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
SLC2A9	ENST00000264784.8	c.814+4332C>T		intron_variant	Intron 6 of 11	1	NM_020041.3	ENSP00000264784.3
SLC2A9	ENST00000309065.7	c.727+4332C>T		intron_variant	Intron 7 of 12	1		ENSP00000311383.3
SLC2A9	ENST00000505104.5	n.848+4332C>T		intron_variant	Intron 7 of 11	1
SLC2A9	ENST00000506583.5	c.727+4332C>T		intron_variant	Intron 8 of 13	5		ENSP00000422209.1

Frequencies

GnomAD3 genomes AF: 0.609 AC: 92494 AN: 151912 Hom.: 29443 Cov.: 32

Gnomad AFR AF: 0.434

Gnomad AMI AF: 0.769

Gnomad AMR AF: 0.517

Gnomad ASJ AF: 0.650

Gnomad EAS AF: 0.519

Gnomad SAS AF: 0.557

Gnomad FIN AF: 0.723

Gnomad MID AF: 0.604

Gnomad NFE AF: 0.724

Gnomad OTH AF: 0.628

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

GnomAD4 genome AF: 0.608 AC: 92506 AN: 152030 Hom.: 29435 Cov.: 32 AF XY: 0.604 AC XY: 44889 AN XY: 74290

African (AFR) AF: 0.434 AC: 17992 AN: 41462

American (AMR) AF: 0.517 AC: 7900 AN: 15278

Ashkenazi Jewish (ASJ) AF: 0.650 AC: 2250 AN: 3464

East Asian (EAS) AF: 0.519 AC: 2674 AN: 5156

South Asian (SAS) AF: 0.557 AC: 2674 AN: 4804

European-Finnish (FIN) AF: 0.723 AC: 7634 AN: 10566

Middle Eastern (MID) AF: 0.582 AC: 171 AN: 294

European-Non Finnish (NFE) AF: 0.724 AC: 49190 AN: 67986

Other (OTH) AF: 0.626 AC: 1320 AN: 2108

Alfa AF: 0.639 Hom.: 4649

Bravo AF: 0.587

Asia WGS AF: 0.559 AC: 1947 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
CADD	Benign	0.84
DANN	Benign	0.43
PhyloP100		-0.66
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: rs938558; hg19: chr4-9939205;