6-25821388-T-G

Position:

• chr6-25821388-T-G

Variant summary

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

The NM_005074.5(SLC17A1):​c.208-1473A>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.651 in 152,126 control chromosomes in the GnomAD database, including 34,147 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 0.65 (34147 hom., cov: 32)
• Consequence: SLC17A1 NM_005074.5 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.46

Genes affected

SLC17A1 (HGNC:10929): (solute carrier family 17 member 1) Predicted to enable sialic acid transmembrane transporter activity. Involved in urate metabolic process and urate transport. Located in apical plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.98).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.868 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
SLC17A1	NM_005074.5	c.208-1473A>C		intron_variant		ENST00000244527.10	NP_005065.2

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
SLC17A1	ENST00000244527.10	c.208-1473A>C		intron_variant		5	NM_005074.5	ENSP00000244527	P1
SLC17A1	ENST00000468082.1	c.208-1473A>C		intron_variant		1		ENSP00000420546
SLC17A1	ENST00000476801.5	c.208-1473A>C		intron_variant		2		ENSP00000420614	P1
SLC17A1	ENST00000377886.6	c.208-1473A>C		intron_variant, NMD_transcript_variant		5		ENSP00000367118

Frequencies

GnomAD3 genomes AF: 0.651 AC: 98943 AN: 152008 Hom.: 34087 Cov.: 32

Gnomad AFR AF: 0.875

Gnomad AMI AF: 0.340

Gnomad AMR AF: 0.646

Gnomad ASJ AF: 0.454

Gnomad EAS AF: 0.832

Gnomad SAS AF: 0.513

Gnomad FIN AF: 0.618

Gnomad MID AF: 0.516

Gnomad NFE AF: 0.532

Gnomad OTH AF: 0.649

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

GnomAD4 genome AF: 0.651 AC: 99066 AN: 152126 Hom.: 34147 Cov.: 32 AF XY: 0.652 AC XY: 48451 AN XY: 74350

Gnomad4 AFR AF: 0.875

Gnomad4 AMR AF: 0.646

Gnomad4 ASJ AF: 0.454

Gnomad4 EAS AF: 0.831

Gnomad4 SAS AF: 0.512

Gnomad4 FIN AF: 0.618

Gnomad4 NFE AF: 0.532

Gnomad4 OTH AF: 0.649

Alfa AF: 0.561 Hom.: 3218

Bravo AF: 0.670

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.98
CADD	Benign	0.25
DANN	Benign	0.43

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: rs1165151; hg19: chr6-25821616;