rs7058099
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_000828.5(GRIA3):c.508+8793C>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000181 in 110,379 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 1 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 Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GRIA3 | NM_000828.5 | c.508+8793C>G | intron_variant | ENST00000622768.5 | |||
GRIA3 | NM_007325.5 | c.508+8793C>G | intron_variant | ENST00000620443.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GRIA3 | ENST00000620443.2 | c.508+8793C>G | intron_variant | 1 | NM_007325.5 | P4 | |||
GRIA3 | ENST00000622768.5 | c.508+8793C>G | intron_variant | 5 | NM_000828.5 | A1 | |||
GRIA3 | ENST00000620581.4 | c.508+8793C>G | intron_variant, NMD_transcript_variant | 1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000181 AC: 2AN: 110379Hom.: 0 Cov.: 23 AF XY: 0.0000306 AC XY: 1AN XY: 32671
GnomAD4 genome ? AF: 0.0000181 AC: 2AN: 110379Hom.: 0 Cov.: 23 AF XY: 0.0000306 AC XY: 1AN XY: 32671
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at