rs5911623
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_000828.5(GRIA3):c.2077-12304G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.257 in 110,670 control chromosomes in the GnomAD database, including 3,176 homozygotes. There are 8,428 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.2077-12304G>A | intron_variant | ENST00000622768.5 | |||
GRIA3 | NM_007325.5 | c.2077-12304G>A | intron_variant | ENST00000620443.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GRIA3 | ENST00000620443.2 | c.2077-12304G>A | intron_variant | 1 | NM_007325.5 | P4 | |||
GRIA3 | ENST00000622768.5 | c.2077-12304G>A | intron_variant | 5 | NM_000828.5 | A1 | |||
GRIA3 | ENST00000620581.4 | c.2077-12304G>A | intron_variant, NMD_transcript_variant | 1 |
Frequencies
GnomAD3 genomes ? AF: 0.257 AC: 28473AN: 110617Hom.: 3179 Cov.: 23 AF XY: 0.256 AC XY: 8431AN XY: 32927
GnomAD4 genome ? AF: 0.257 AC: 28458AN: 110670Hom.: 3176 Cov.: 23 AF XY: 0.255 AC XY: 8428AN XY: 32992
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at