rs4522263
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Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_000834.5(GRIN2B):c.*3242G>C variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0589 in 152,248 control chromosomes in the GnomAD database, including 373 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 0.059 ( 373 hom., cov: 33)
Exomes 𝑓: 0.11 ( 0 hom. )
Consequence
GRIN2B
NM_000834.5 3_prime_UTR
NM_000834.5 3_prime_UTR
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.798
Genes affected
GRIN2B (HGNC:4586): (glutamate ionotropic receptor NMDA type subunit 2B) This gene encodes a member of the N-methyl-D-aspartate (NMDA) receptor family within the ionotropic glutamate receptor superfamily. The encoded protein is a subunit of the NMDA receptor ion channel which acts as an agonist binding site for glutamate. The NMDA receptors mediate a slow calcium-permeable component of excitatory synaptic transmission in the central nervous system. The NMDA receptors are heterotetramers of seven genetically encoded, differentially expressed subunits including NR1 (GRIN1), NR2 (GRIN2A, GRIN2B, GRIN2C, or GRIN2D) and NR3 (GRIN3A or GRIN3B). The early expression of this gene in development suggests a role in brain development, circuit formation, synaptic plasticity, and cellular migration and differentiation. Naturally occurring mutations within this gene are associated with neurodevelopmental disorders including autism spectrum disorder, attention deficit hyperactivity disorder, epilepsy, and schizophrenia. [provided by RefSeq, Aug 2017]
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ACMG classification
Classification made for transcript
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 = 0.19 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GRIN2B | NM_000834.5 | c.*3242G>C | 3_prime_UTR_variant | 14/14 | ENST00000609686.4 | ||
GRIN2B | NM_001413992.1 | c.*3242G>C | 3_prime_UTR_variant | 15/15 | |||
GRIN2B | XM_005253351.3 | c.*3242G>C | 3_prime_UTR_variant | 4/4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GRIN2B | ENST00000609686.4 | c.*3242G>C | 3_prime_UTR_variant | 14/14 | 1 | NM_000834.5 | P1 | ||
GRIN2B | ENST00000637214.1 | c.69+49062G>C | intron_variant | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.0590 AC: 8980AN: 152112Hom.: 374 Cov.: 33
GnomAD3 genomes
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GnomAD4 exome AF: 0.111 AC: 2AN: 18Hom.: 0 Cov.: 0 AF XY: 0.100 AC XY: 1AN XY: 10
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GnomAD4 genome ? AF: 0.0589 AC: 8970AN: 152230Hom.: 373 Cov.: 33 AF XY: 0.0614 AC XY: 4568AN XY: 74416
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ClinVar
Not reported inComputational scores
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BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
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SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at