rs12836469
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_000828.5(GRIA3):c.1878-2811T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.273 in 110,930 control chromosomes in the GnomAD database, including 3,285 homozygotes. There are 8,685 hemizygotes in GnomAD. 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
Consequence
NM_000828.5 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GRIA3 | NM_000828.5 | c.1878-2811T>C | intron_variant | ENST00000622768.5 | |||
GRIA3 | NM_007325.5 | c.1878-2811T>C | intron_variant | ENST00000620443.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GRIA3 | ENST00000620443.2 | c.1878-2811T>C | intron_variant | 1 | NM_007325.5 | P4 | |||
GRIA3 | ENST00000622768.5 | c.1878-2811T>C | intron_variant | 5 | NM_000828.5 | A1 | |||
GRIA3 | ENST00000620581.4 | c.1878-2811T>C | intron_variant, NMD_transcript_variant | 1 |
Frequencies
GnomAD3 genomes ? AF: 0.273 AC: 30276AN: 110877Hom.: 3289 Cov.: 23 AF XY: 0.262 AC XY: 8671AN XY: 33119
GnomAD4 genome ? AF: 0.273 AC: 30275AN: 110930Hom.: 3285 Cov.: 23 AF XY: 0.262 AC XY: 8685AN XY: 33182
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at