rs10210993

Variant names:

• chr2-134301309-C-T
• rs10210993
• NM_002410.5:c.407-16220C>T

Variant summary

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

The NM_002410.5(MGAT5):​c.407-16220C>T 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 152,114 control chromosomes in the GnomAD database, including 3,433 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 0.17 (3433 hom., cov: 32)
• Consequence: MGAT5 NM_002410.5 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.293
• Publications: 2 publications found

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

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.88).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.263 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_002410.5. 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
	MGAT5	NM_002410.5	MANE Select	c.407-16220C>T		intron	N/A	NP_002401.1
	MGAT5	NM_001371457.1		c.407-16220C>T		intron	N/A	NP_001358386.1

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	MGAT5	ENST00000281923.4	TSL:1 MANE Select	c.407-16220C>T		intron	N/A	ENSP00000281923.2
	MGAT5	ENST00000409645.5	TSL:5	c.407-16220C>T		intron	N/A	ENSP00000386377.1
	MGAT5	ENST00000857190.1		c.407-16220C>T		intron	N/A	ENSP00000527249.1

Frequencies

GnomAD3 genomes AF: 0.175 AC: 26570 AN: 151996 Hom.: 3432 Cov.: 32

Gnomad AFR AF: 0.0509

Gnomad AMI AF: 0.232

Gnomad AMR AF: 0.0993

Gnomad ASJ AF: 0.0582

Gnomad EAS AF: 0.000964

Gnomad SAS AF: 0.0612

Gnomad FIN AF: 0.360

Gnomad MID AF: 0.0443

Gnomad NFE AF: 0.267

Gnomad OTH AF: 0.134

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

GnomAD4 genome AF: 0.175 AC: 26559 AN: 152114 Hom.: 3433 Cov.: 32 AF XY: 0.174 AC XY: 12910 AN XY: 74358

African (AFR) AF: 0.0507 AC: 2107 AN: 41530

American (AMR) AF: 0.0992 AC: 1515 AN: 15270

Ashkenazi Jewish (ASJ) AF: 0.0582 AC: 202 AN: 3468

East Asian (EAS) AF: 0.000966 AC: 5 AN: 5176

South Asian (SAS) AF: 0.0607 AC: 293 AN: 4830

European-Finnish (FIN) AF: 0.360 AC: 3803 AN: 10552

Middle Eastern (MID) AF: 0.0374 AC: 11 AN: 294

European-Non Finnish (NFE) AF: 0.267 AC: 18130 AN: 67968

Other (OTH) AF: 0.133 AC: 281 AN: 2114

Alfa AF: 0.143 Hom.: 525

Bravo AF: 0.148

Asia WGS AF: 0.0340 AC: 117 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.88
CADD	Benign	1.1
DANN	Benign	0.38
PhyloP100		-0.29
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: rs10210993; hg19: chr2-135058880;