rs10493064

Positions:

• chr1-34903413-T-A

Variant summary

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

The NM_001080418.3(DLGAP3):​c.1107+864A>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.176 in 152,212 control chromosomes in the GnomAD database, including 2,767 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 0.18 (2767 hom., cov: 33)
• Consequence: DLGAP3 NM_001080418.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.181

Genes affected

DLGAP3 (HGNC:30368): (DLG associated protein 3) Predicted to enable PDZ domain binding activity; molecular adaptor activity; and scaffold protein binding activity. Predicted to be involved in protein-containing complex assembly and regulation of postsynaptic neurotransmitter receptor activity. Predicted to be located in synapse. Predicted to be part of postsynaptic density. Predicted to be active in several cellular components, including cholinergic synapse; glutamatergic synapse; and neuromuscular junction. [provided by Alliance of Genome Resources, Apr 2022]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.83).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.426 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
DLGAP3	NM_001080418.3	c.1107+864A>T		intron_variant		ENST00000373347.6	NP_001073887.1
DLGAP3	XM_011541879.3	c.1107+864A>T		intron_variant			XP_011540181.1
DLGAP3	XM_047426631.1	c.1107+864A>T		intron_variant			XP_047282587.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
DLGAP3	ENST00000373347.6	c.1107+864A>T		intron_variant		5	NM_001080418.3	ENSP00000362444	P1
DLGAP3	ENST00000235180.4	c.1107+864A>T		intron_variant		2		ENSP00000235180	P1

Frequencies

GnomAD3 genomes AF: 0.176 AC: 26773 AN: 152092 Hom.: 2767 Cov.: 33

Gnomad AFR AF: 0.127

Gnomad AMI AF: 0.189

Gnomad AMR AF: 0.273

Gnomad ASJ AF: 0.139

Gnomad EAS AF: 0.441

Gnomad SAS AF: 0.262

Gnomad FIN AF: 0.213

Gnomad MID AF: 0.152

Gnomad NFE AF: 0.154

Gnomad OTH AF: 0.167

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

GnomAD4 genome AF: 0.176 AC: 26779 AN: 152212 Hom.: 2767 Cov.: 33 AF XY: 0.181 AC XY: 13470 AN XY: 74396

Gnomad4 AFR AF: 0.126

Gnomad4 AMR AF: 0.274

Gnomad4 ASJ AF: 0.139

Gnomad4 EAS AF: 0.441

Gnomad4 SAS AF: 0.262

Gnomad4 FIN AF: 0.213

Gnomad4 NFE AF: 0.154

Gnomad4 OTH AF: 0.167

Alfa AF: 0.160 Hom.: 283

Bravo AF: 0.177

Asia WGS AF: 0.294 AC: 1020 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.83
CADD	Benign	6.1
DANN	Benign	0.42

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: rs10493064; hg19: chr1-35369014;