chr12-40021792-T-C

Position:

• chr12-40021792-T-C

Variant summary

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

The NM_052885.4(SLC2A13):​c.925+6509A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.664 in 152,038 control chromosomes in the GnomAD database, including 33,899 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 0.66 (33899 hom., cov: 32)
• Consequence: SLC2A13 NM_052885.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.724

Genes affected

SLC2A13 (HGNC:15956): (solute carrier family 2 member 13) Enables ATPase binding activity; myo-inositol:proton symporter activity; and protease binding activity. Involved in myo-inositol transport and positive regulation of amyloid-beta formation. Is integral component of plasma membrane. Part of cell body; cell periphery; and cell projection. [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=-0.89).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.725 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
SLC2A13	NM_052885.4	c.925+6509A>G		intron_variant		ENST00000280871.9

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
SLC2A13	ENST00000280871.9	c.925+6509A>G		intron_variant		1	NM_052885.4	P1
SLC2A13	ENST00000380858.1	c.925+6509A>G		intron_variant		1

Frequencies

GnomAD3 genomes AF: 0.664 AC: 100904 AN: 151920 Hom.: 33844 Cov.: 32

Gnomad AFR AF: 0.731

Gnomad AMI AF: 0.584

Gnomad AMR AF: 0.679

Gnomad ASJ AF: 0.571

Gnomad EAS AF: 0.457

Gnomad SAS AF: 0.498

Gnomad FIN AF: 0.697

Gnomad MID AF: 0.731

Gnomad NFE AF: 0.648

Gnomad OTH AF: 0.668

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

GnomAD4 genome AF: 0.664 AC: 101018 AN: 152038 Hom.: 33899 Cov.: 32 AF XY: 0.664 AC XY: 49334 AN XY: 74334

Gnomad4 AFR AF: 0.731

Gnomad4 AMR AF: 0.680

Gnomad4 ASJ AF: 0.571

Gnomad4 EAS AF: 0.456

Gnomad4 SAS AF: 0.498

Gnomad4 FIN AF: 0.697

Gnomad4 NFE AF: 0.648

Gnomad4 OTH AF: 0.670

Alfa AF: 0.640 Hom.: 13457

Bravo AF: 0.669

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	9.2
DANN	Benign	0.72

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: rs520138; hg19: chr12-40415594;