2-134338799-T-G

Position:

• chr2-134338799-T-G

Variant summary

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

The NM_002410.5(MGAT5):​c.807+379T>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.175 in 152,102 control chromosomes in the GnomAD database, including 3,471 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 0.18 (3471 hom., cov: 32)
• Consequence: MGAT5 NM_002410.5 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.679

Genes affected

MGAT5 (HGNC:7049): (alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase) The protein encoded by this gene belongs to the glycosyltransferase family. It catalyzes the addition of beta-1,6-N-acetylglucosamine to the alpha-linked mannose of biantennary N-linked oligosaccharides present on the newly synthesized glycoproteins. It is one of the most important enzymes involved in the regulation of the biosynthesis of glycoprotein oligosaccharides. Alterations of the oligosaccharides on cell surface glycoproteins cause significant changes in the adhesive or migratory behavior of a cell. Increase in the activity of this enzyme has been correlated with the progression of invasive malignancies. [provided by RefSeq, Oct 2011]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.83).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.265 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
MGAT5	NM_002410.5	c.807+379T>G		intron_variant		ENST00000281923.4	NP_002401.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
MGAT5	ENST00000281923.4	c.807+379T>G		intron_variant		1	NM_002410.5	ENSP00000281923	P1
MGAT5	ENST00000409645.5	c.807+379T>G		intron_variant		5		ENSP00000386377	P1

Frequencies

GnomAD3 genomes AF: 0.176 AC: 26691 AN: 151984 Hom.: 3470 Cov.: 32

Gnomad AFR AF: 0.0511

Gnomad AMI AF: 0.232

Gnomad AMR AF: 0.100

Gnomad ASJ AF: 0.0565

Gnomad EAS AF: 0.000962

Gnomad SAS AF: 0.0620

Gnomad FIN AF: 0.360

Gnomad MID AF: 0.0506

Gnomad NFE AF: 0.268

Gnomad OTH AF: 0.136

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

GnomAD4 genome AF: 0.175 AC: 26680 AN: 152102 Hom.: 3471 Cov.: 32 AF XY: 0.174 AC XY: 12943 AN XY: 74314

Gnomad4 AFR AF: 0.0510

Gnomad4 AMR AF: 0.0999

Gnomad4 ASJ AF: 0.0565

Gnomad4 EAS AF: 0.000964

Gnomad4 SAS AF: 0.0614

Gnomad4 FIN AF: 0.360

Gnomad4 NFE AF: 0.268

Gnomad4 OTH AF: 0.135

Alfa AF: 0.214 Hom.: 491

Bravo AF: 0.149

Asia WGS AF: 0.0340 AC: 118 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.83
CADD	Benign	1.4
DANN	Benign	0.57

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: rs10170556; hg19: chr2-135096370;