rs7116340

Positions:

• chr11-85440463-T-A
• chr11-85440463-T-C

Variant summary

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

The NM_001142699.3(DLG2):​c.41-155098A>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.752 in 152,132 control chromosomes in the GnomAD database, including 44,363 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 0.75 (44363 hom., cov: 32)
• Consequence: DLG2 NM_001142699.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.44

Genes affected

DLG2 (HGNC:2901): (discs large MAGUK scaffold protein 2) This gene encodes a member of the membrane-associated guanylate kinase (MAGUK) family. The encoded protein forms a heterodimer with a related family member that may interact at postsynaptic sites to form a multimeric scaffold for the clustering of receptors, ion channels, and associated signaling proteins. Multiple transcript variants encoding different isoforms have been found for this gene. Additional transcript variants have been described, but their full-length nature is not known. [provided by RefSeq, Dec 2008]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.8).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.865 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
DLG2	NM_001142699.3	c.41-155098A>T		intron_variant		ENST00000376104.7	NP_001136171.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
DLG2	ENST00000376104.7	c.41-155098A>T		intron_variant		1	NM_001142699.3	ENSP00000365272

Frequencies

GnomAD3 genomes AF: 0.753 AC: 114443 AN: 152016 Hom.: 44372 Cov.: 32

Gnomad AFR AF: 0.591

Gnomad AMI AF: 0.908

Gnomad AMR AF: 0.636

Gnomad ASJ AF: 0.853

Gnomad EAS AF: 0.673

Gnomad SAS AF: 0.731

Gnomad FIN AF: 0.791

Gnomad MID AF: 0.886

Gnomad NFE AF: 0.871

Gnomad OTH AF: 0.771

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

GnomAD4 genome AF: 0.752 AC: 114445 AN: 152132 Hom.: 44363 Cov.: 32 AF XY: 0.743 AC XY: 55292 AN XY: 74374

Gnomad4 AFR AF: 0.590

Gnomad4 AMR AF: 0.635

Gnomad4 ASJ AF: 0.853

Gnomad4 EAS AF: 0.672

Gnomad4 SAS AF: 0.731

Gnomad4 FIN AF: 0.791

Gnomad4 NFE AF: 0.871

Gnomad4 OTH AF: 0.768

Alfa AF: 0.805 Hom.: 5926

Bravo AF: 0.733

Asia WGS AF: 0.659 AC: 2290 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.80
CADD	Benign	8.6
DANN	Benign	0.52

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Other links and lift over

dbSNP: rs7116340; hg19: chr11-85151507;