chr11-120938751-T-G

Position:

• chr11-120938751-T-G

Variant summary

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

The NM_014619.5(GRIK4):​c.1477-1596T>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0369 in 152,308 control chromosomes in the GnomAD database, including 151 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 0.037 (151 hom., cov: 32)
• Consequence: GRIK4 NM_014619.5 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.842

Genes affected

GRIK4 (HGNC:4582): (glutamate ionotropic receptor kainate type subunit 4) This gene encodes a protein that belongs to the glutamate-gated ionic channel family. Glutamate functions as the major excitatory neurotransmitter in the central nervous system through activation of ligand-gated ion channels and G protein-coupled membrane receptors. The protein encoded by this gene forms functional heteromeric kainate-preferring ionic channels with the subunits encoded by related gene family members. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]

GRIK4 (HGNC:):

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.0565 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
GRIK4	NM_014619.5	c.1477-1596T>G		intron_variant		ENST00000527524.8	NP_055434.2

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
GRIK4	ENST00000527524.8	c.1477-1596T>G		intron_variant		2	NM_014619.5	ENSP00000435648.2
GRIK4	ENST00000438375.2	c.1477-1596T>G		intron_variant		1		ENSP00000404063.2
GRIK4	ENST00000533291.5	n.1875-1596T>G		intron_variant		1
GRIK4	ENST00000638419.1	c.1477-1596T>G		intron_variant		5		ENSP00000492086.1

Frequencies

GnomAD3 genomes AF: 0.0369 AC: 5618 AN: 152188 Hom.: 151 Cov.: 32

Gnomad AFR AF: 0.00941

Gnomad AMI AF: 0.00219

Gnomad AMR AF: 0.0241

Gnomad ASJ AF: 0.0565

Gnomad EAS AF: 0.00135

Gnomad SAS AF: 0.0313

Gnomad FIN AF: 0.0458

Gnomad MID AF: 0.0190

Gnomad NFE AF: 0.0581

Gnomad OTH AF: 0.0292

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

GnomAD4 genome AF: 0.0369 AC: 5613 AN: 152308 Hom.: 151 Cov.: 32 AF XY: 0.0355 AC XY: 2645 AN XY: 74464

Gnomad4 AFR AF: 0.00941

Gnomad4 AMR AF: 0.0241

Gnomad4 ASJ AF: 0.0565

Gnomad4 EAS AF: 0.00135

Gnomad4 SAS AF: 0.0313

Gnomad4 FIN AF: 0.0458

Gnomad4 NFE AF: 0.0580

Gnomad4 OTH AF: 0.0284

Alfa AF: 0.0499 Hom.: 311

Bravo AF: 0.0334

Asia WGS AF: 0.0120 AC: 43 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	0.091
DANN	Benign	0.41

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: rs12797755; hg19: chr11-120809460;