rs2712622

chr12-101206543-T-Cchr12-101206543-T-G

Variant summary

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

The NM_145913.5(SLC5A8):c.352-1978A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.532 in 151,956 control chromosomes in the GnomAD database, including 22,471 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 0.53 (22471 hom., cov: 32)
• Consequence: SLC5A8 NM_145913.5 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -3.12

Genes affected

SLC5A8 (HGNC:19119): (solute carrier family 5 member 8) SLC5A8 has been shown to transport iodide by a passive mechanism (Rodriguez et al., 2002 [PubMed 12107270]) and monocarboxylates and short-chain fatty acids by a sodium-coupled mechanism (Gopal et al., 2004 [PubMed 15322102]). In kidney, SLC5A8 functions as a high-affinity sodium-coupled lactate transporter involved in reabsorption of lactate and maintenance of blood lactate levels (Thangaraju et al., 2006 [PubMed 16873376]).[supplied by OMIM, Dec 2008]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.95).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.691 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
SLC5A8	NM_145913.5	c.352-1978A>G		intron_variant		ENST00000536262.3
SLC5A8	XM_017018910.3	c.352-1978A>G		intron_variant
SLC5A8	XR_007063055.1	n.742-1978A>G		intron_variant, non_coding_transcript_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
SLC5A8	ENST00000536262.3	c.352-1978A>G		intron_variant		1	NM_145913.5	P1

Frequencies

GnomAD3 genomes AF: 0.532 AC: 80784 AN: 151838 Hom.: 22444 Cov.: 32

Gnomad AFR AF: 0.698

Gnomad AMI AF: 0.474

Gnomad AMR AF: 0.459

Gnomad ASJ AF: 0.498

Gnomad EAS AF: 0.644

Gnomad SAS AF: 0.413

Gnomad FIN AF: 0.516

Gnomad MID AF: 0.525

Gnomad NFE AF: 0.453

Gnomad OTH AF: 0.519

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

GnomAD4 genome AF: 0.532 AC: 80855 AN: 151956 Hom.: 22471 Cov.: 32 AF XY: 0.533 AC XY: 39555 AN XY: 74242

Gnomad4 AFR AF: 0.698

Gnomad4 AMR AF: 0.458

Gnomad4 ASJ AF: 0.498

Gnomad4 EAS AF: 0.645

Gnomad4 SAS AF: 0.414

Gnomad4 FIN AF: 0.516

Gnomad4 NFE AF: 0.453

Gnomad4 OTH AF: 0.517

Alfa AF: 0.470 Hom.: 9939

Bravo AF: 0.540

Asia WGS AF: 0.524 AC: 1818 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.95
Cadd	Benign	0.059
Dann	Benign	0.35

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: rs2712622; hg19: chr12-101600321;