rs4135150

Variant names:

• chr12-103989821-T-C
• rs4135150
• NM_001384711.1:c.881-244A>G

Variant summary

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

The NM_001384711.1(GLT8D2):​c.881-244A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0841 in 152,026 control chromosomes in the GnomAD database, including 831 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 0.084 (831 hom., cov: 31)
• Consequence: GLT8D2 NM_001384711.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0270
• Publications: 5 publications found

Genes affected

GLT8D2 (HGNC:24890): (glycosyltransferase 8 domain containing 2) Predicted to enable glycosyltransferase activity. Predicted to be integral component of membrane. Predicted to be active in Golgi apparatus. [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=-0.89).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.295 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_001384711.1. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	GLT8D2	NM_001384711.1	MANE Select	c.881-244A>G		intron	N/A	NP_001371640.1	Q9H1C3
	GLT8D2	NM_001384712.1		c.896-244A>G		intron	N/A	NP_001371641.1
	GLT8D2	NM_001316967.2		c.881-244A>G		intron	N/A	NP_001303896.1	Q9H1C3

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	GLT8D2	ENST00000360814.9	TSL:1 MANE Select	c.881-244A>G		intron	N/A	ENSP00000354053.4	Q9H1C3
	GLT8D2	ENST00000951197.1		c.950-244A>G		intron	N/A	ENSP00000621256.1
	GLT8D2	ENST00000546436.5	TSL:5	c.881-244A>G		intron	N/A	ENSP00000449750.1	Q9H1C3

Frequencies

GnomAD3 genomes AF: 0.0841 AC: 12775 AN: 151908 Hom.: 831 Cov.: 31

Gnomad AFR AF: 0.0199

Gnomad AMI AF: 0.128

Gnomad AMR AF: 0.0997

Gnomad ASJ AF: 0.0648

Gnomad EAS AF: 0.308

Gnomad SAS AF: 0.0938

Gnomad FIN AF: 0.103

Gnomad MID AF: 0.0316

Gnomad NFE AF: 0.0999

Gnomad OTH AF: 0.0799

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

GnomAD4 genome AF: 0.0841 AC: 12779 AN: 152026 Hom.: 831 Cov.: 31 AF XY: 0.0868 AC XY: 6456 AN XY: 74336

African (AFR) AF: 0.0198 AC: 823 AN: 41530

American (AMR) AF: 0.100 AC: 1526 AN: 15266

Ashkenazi Jewish (ASJ) AF: 0.0648 AC: 225 AN: 3470

East Asian (EAS) AF: 0.308 AC: 1588 AN: 5160

South Asian (SAS) AF: 0.0939 AC: 452 AN: 4816

European-Finnish (FIN) AF: 0.103 AC: 1082 AN: 10556

Middle Eastern (MID) AF: 0.0340 AC: 10 AN: 294

European-Non Finnish (NFE) AF: 0.100 AC: 6788 AN: 67910

Other (OTH) AF: 0.0795 AC: 168 AN: 2112

Alfa AF: 0.0931 Hom.: 150

Bravo AF: 0.0828

Asia WGS AF: 0.168 AC: 582 AN: 3474

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	3.5
DANN	Benign	0.81
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: rs4135150; hg19: chr12-104383599;