rs2217235

chr12-86751446-A-G

Variant summary

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

The ENST00000621808.5(MGAT4C):c.-381-24205T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.474 in 151,804 control chromosomes in the GnomAD database, including 17,345 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 0.47 (17345 hom., cov: 32)
• Consequence: MGAT4C ENST00000621808.5 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.718

Genes affected

MGAT4C (HGNC:30871): (MGAT4 family member C) Predicted to enable acetylglucosaminyltransferase activity. Predicted to be involved in protein N-linked glycosylation. Predicted to be located in Golgi membrane. [provided by Alliance of Genome Resources, Apr 2022]

(HGNC:):

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.01).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.513 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
MGAT4C	NM_001351285.2	c.-326-24205T>C		intron_variant
MGAT4C	NM_001351286.2	c.-261-24205T>C		intron_variant
MGAT4C	NM_013244.5	c.-229+87220T>C		intron_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
MGAT4C	ENST00000621808.5	c.-381-24205T>C		intron_variant		1		P1
	ENST00000550014.1	n.334-24205T>C		intron_variant, non_coding_transcript_variant		5
MGAT4C	ENST00000548651.6	c.-261-24205T>C		intron_variant		5		P1
MGAT4C	ENST00000551921.2	n.240-24205T>C		intron_variant, non_coding_transcript_variant		5

Frequencies

GnomAD3 genomes AF: 0.474 AC: 71942 AN: 151686 Hom.: 17324 Cov.: 32

Gnomad AFR AF: 0.518

Gnomad AMI AF: 0.512

Gnomad AMR AF: 0.382

Gnomad ASJ AF: 0.523

Gnomad EAS AF: 0.466

Gnomad SAS AF: 0.465

Gnomad FIN AF: 0.393

Gnomad MID AF: 0.468

Gnomad NFE AF: 0.480

Gnomad OTH AF: 0.450

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

GnomAD4 genome AF: 0.474 AC: 72005 AN: 151804 Hom.: 17345 Cov.: 32 AF XY: 0.470 AC XY: 34838 AN XY: 74148

Gnomad4 AFR AF: 0.518

Gnomad4 AMR AF: 0.381

Gnomad4 ASJ AF: 0.523

Gnomad4 EAS AF: 0.465

Gnomad4 SAS AF: 0.464

Gnomad4 FIN AF: 0.393

Gnomad4 NFE AF: 0.480

Gnomad4 OTH AF: 0.448

Alfa AF: 0.480 Hom.: 3254

Bravo AF: 0.474

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
Cadd	Benign	0.56
Dann	Benign	0.33

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: rs2217235; hg19: chr12-87145223;