rs10506142

Variant names:

• chr12-39986987-G-A
• rs10506142
• NM_052885.4:c.926-35622C>T

Your query was ambiguous. Multiple possible variants found:

• chr12-39986987-G-A
• chr12-39986987-G-T

Variant summary

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

The NM_052885.4(SLC2A13):​c.926-35622C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0376 in 152,208 control chromosomes in the GnomAD database, including 446 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 0.038 (446 hom., cov: 32)
• Consequence: SLC2A13 NM_052885.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0270
• Publications: 1 publications found

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

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.8).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.372 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
SLC2A13	NM_052885.4	c.926-35622C>T		intron_variant	Intron 3 of 9	ENST00000280871.9	NP_443117.3

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
SLC2A13	ENST00000280871.9	c.926-35622C>T		intron_variant	Intron 3 of 9	1	NM_052885.4	ENSP00000280871.4
SLC2A13	ENST00000380858.1	c.926-35622C>T		intron_variant	Intron 3 of 3	1		ENSP00000370239.1

Frequencies

GnomAD3 genomes AF: 0.0376 AC: 5722 AN: 152090 Hom.: 446 Cov.: 32

Gnomad AFR AF: 0.0307

Gnomad AMI AF: 0.0493

Gnomad AMR AF: 0.0496

Gnomad ASJ AF: 0.0291

Gnomad EAS AF: 0.386

Gnomad SAS AF: 0.103

Gnomad FIN AF: 0.0187

Gnomad MID AF: 0.00949

Gnomad NFE AF: 0.0116

Gnomad OTH AF: 0.0320

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

GnomAD4 genome AF: 0.0376 AC: 5727 AN: 152208 Hom.: 446 Cov.: 32 AF XY: 0.0414 AC XY: 3082 AN XY: 74416

African (AFR) AF: 0.0307 AC: 1277 AN: 41546

American (AMR) AF: 0.0499 AC: 762 AN: 15268

Ashkenazi Jewish (ASJ) AF: 0.0291 AC: 101 AN: 3468

East Asian (EAS) AF: 0.386 AC: 1994 AN: 5166

South Asian (SAS) AF: 0.102 AC: 492 AN: 4820

European-Finnish (FIN) AF: 0.0187 AC: 198 AN: 10606

Middle Eastern (MID) AF: 0.0102 AC: 3 AN: 294

European-Non Finnish (NFE) AF: 0.0116 AC: 786 AN: 68014

Other (OTH) AF: 0.0326 AC: 69 AN: 2114

Alfa AF: 0.0251 Hom.: 60

Bravo AF: 0.0418

Asia WGS AF: 0.220 AC: 766 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.80
CADD	Benign	12
DANN	Benign	0.74
PhyloP100		0.027
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: rs10506142; hg19: chr12-40380789;