3-65702707-T-G

Position:

• chr3-65702707-T-G

Variant summary

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

The NM_001033057.2(MAGI1):​c.314-80619A>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.308 in 151,926 control chromosomes in the GnomAD database, including 7,363 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 0.31 (7363 hom., cov: 31)
• Consequence: MAGI1 NM_001033057.2 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.713

Genes affected

MAGI1 (HGNC:946): (membrane associated guanylate kinase, WW and PDZ domain containing 1) The protein encoded by this gene is a member of the membrane-associated guanylate kinase homologue (MAGUK) family. MAGUK proteins participate in the assembly of multiprotein complexes on the inner surface of the plasma membrane at regions of cell-cell contact. The product of this gene may play a role as scaffolding protein at cell-cell junctions. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.82).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.357 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
MAGI1	NM_001033057.2	c.314-80619A>C		intron_variant		ENST00000402939.7	NP_001028229.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
MAGI1	ENST00000402939.7	c.314-80619A>C		intron_variant		1	NM_001033057.2	ENSP00000385450.2

Frequencies

GnomAD3 genomes AF: 0.308 AC: 46733 AN: 151808 Hom.: 7361 Cov.: 31

Gnomad AFR AF: 0.363

Gnomad AMI AF: 0.237

Gnomad AMR AF: 0.236

Gnomad ASJ AF: 0.291

Gnomad EAS AF: 0.250

Gnomad SAS AF: 0.175

Gnomad FIN AF: 0.295

Gnomad MID AF: 0.237

Gnomad NFE AF: 0.309

Gnomad OTH AF: 0.299

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

GnomAD4 genome AF: 0.308 AC: 46759 AN: 151926 Hom.: 7363 Cov.: 31 AF XY: 0.300 AC XY: 22287 AN XY: 74262

Gnomad4 AFR AF: 0.362

Gnomad4 AMR AF: 0.236

Gnomad4 ASJ AF: 0.291

Gnomad4 EAS AF: 0.250

Gnomad4 SAS AF: 0.174

Gnomad4 FIN AF: 0.295

Gnomad4 NFE AF: 0.309

Gnomad4 OTH AF: 0.302

Alfa AF: 0.290 Hom.: 9369

Bravo AF: 0.308

Asia WGS AF: 0.231 AC: 800 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.82
CADD	Benign	3.7
DANN	Benign	0.74

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: rs9311951; hg19: chr3-65688382;