1-9038213-C-T

Position:

• chr1-9038213-C-T

Variant summary

Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_Strong BP6_Very_Strong BA1

The NM_003039.3(SLC2A5):​c.1175-189G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.293 in 152,102 control chromosomes in the GnomAD database, including 6,985 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).

• Frequency: Genomes: 𝑓 0.29 (6985 hom., cov: 33)
• Consequence: SLC2A5 NM_003039.3 intron
• Clinical Significance: Benign criteria provided, multiple submitters, no conflicts B:2
• Conservation: PhyloP100: -0.218

Genes affected

SLC2A5 (HGNC:11010): (solute carrier family 2 member 5) The protein encoded by this gene is a fructose transporter responsible for fructose uptake by the small intestine. The encoded protein also is necessary for the increase in blood pressure due to high dietary fructose consumption. [provided by RefSeq, Jun 2016]

ACMG classification

Verdict is Benign. Variant got -20 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.82).
• BP6: Variant 1-9038213-C-T is Benign according to our data. Variant chr1-9038213-C-T is described in ClinVar as [Benign]. Clinvar id is 1246113.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars.
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.392 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
SLC2A5	NM_003039.3	c.1175-189G>A		intron_variant		ENST00000377424.9	NP_003030.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
SLC2A5	ENST00000377424.9	c.1175-189G>A		intron_variant		1	NM_003039.3	ENSP00000366641.4

Frequencies

GnomAD3 genomes AF: 0.293 AC: 44569 AN: 151982 Hom.: 6968 Cov.: 33

Gnomad AFR AF: 0.397

Gnomad AMI AF: 0.185

Gnomad AMR AF: 0.253

Gnomad ASJ AF: 0.214

Gnomad EAS AF: 0.230

Gnomad SAS AF: 0.229

Gnomad FIN AF: 0.281

Gnomad MID AF: 0.171

Gnomad NFE AF: 0.257

Gnomad OTH AF: 0.273

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

GnomAD4 genome AF: 0.293 AC: 44627 AN: 152102 Hom.: 6985 Cov.: 33 AF XY: 0.294 AC XY: 21833 AN XY: 74360

Gnomad4 AFR AF: 0.397

Gnomad4 AMR AF: 0.252

Gnomad4 ASJ AF: 0.214

Gnomad4 EAS AF: 0.230

Gnomad4 SAS AF: 0.229

Gnomad4 FIN AF: 0.281

Gnomad4 NFE AF: 0.257

Gnomad4 OTH AF: 0.273

Alfa AF: 0.266 Hom.: 2689

Bravo AF: 0.293

Asia WGS AF: 0.245 AC: 851 AN: 3478

ClinVar

Significance: Benign

Submissions summary: Benign:2

Revision: criteria provided, multiple submitters, no conflicts

Submissions by phenotype

not provided Benign:2

Benign, criteria provided, single submitter	clinical testing	GeneDx	Sep 04, 2018	- -
Benign, criteria provided, single submitter	not provided	Breakthrough Genomics, Breakthrough Genomics	-	- -

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.82
CADD	Benign	1.5
DANN	Benign	0.49

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: rs875995; hg19: chr1-9098272;