chr11-83683594-G-A

Position:

• chr11-83683594-G-A

Variant summary

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

The NM_001142699.3(DLG2):​c.1826-50269C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.28 in 151,974 control chromosomes in the GnomAD database, including 6,295 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 0.28 (6295 hom., cov: 32)
• Consequence: DLG2 NM_001142699.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.22

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]

DLG2-AS2 (HGNC:40179): (DLG2 antisense RNA 2)

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.95).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.311 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
DLG2	NM_001142699.3	c.1826-50269C>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.1826-50269C>T		intron_variant		1	NM_001142699.3	ENSP00000365272
DLG2-AS2	ENST00000533669.5	n.200-855G>A		intron_variant, non_coding_transcript_variant		5

Frequencies

GnomAD3 genomes AF: 0.280 AC: 42595 AN: 151856 Hom.: 6287 Cov.: 32

Gnomad AFR AF: 0.237

Gnomad AMI AF: 0.357

Gnomad AMR AF: 0.171

Gnomad ASJ AF: 0.284

Gnomad EAS AF: 0.209

Gnomad SAS AF: 0.318

Gnomad FIN AF: 0.400

Gnomad MID AF: 0.307

Gnomad NFE AF: 0.315

Gnomad OTH AF: 0.268

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

GnomAD4 genome AF: 0.280 AC: 42625 AN: 151974 Hom.: 6295 Cov.: 32 AF XY: 0.283 AC XY: 20984 AN XY: 74266

Gnomad4 AFR AF: 0.238

Gnomad4 AMR AF: 0.171

Gnomad4 ASJ AF: 0.284

Gnomad4 EAS AF: 0.209

Gnomad4 SAS AF: 0.318

Gnomad4 FIN AF: 0.400

Gnomad4 NFE AF: 0.315

Gnomad4 OTH AF: 0.268

Alfa AF: 0.199 Hom.: 540

Bravo AF: 0.259

Asia WGS AF: 0.261 AC: 913 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.95
CADD	Benign	0.39
DANN	Benign	0.45

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: rs11233714; hg19: chr11-83394637;