NM_022904.3:c.2978G>A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_022904.3(RASAL3):c.2978G>A(p.Gly993Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000206 in 1,456,362 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. G993A) has been classified as Uncertain significance.
Frequency
Consequence
NM_022904.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RASAL3 | ENST00000343625.12 | c.2978G>A | p.Gly993Glu | missense_variant | Exon 18 of 18 | 2 | NM_022904.3 | ENSP00000341905.5 | ||
RASAL3 | ENST00000599694.1 | c.1277G>A | p.Gly426Glu | missense_variant | Exon 7 of 7 | 5 | ENSP00000468841.1 | |||
RASAL3 | ENST00000609274 | c.*801G>A | 3_prime_UTR_variant | Exon 4 of 4 | 2 | ENSP00000476634.1 | ||||
RASAL3 | ENST00000602101.6 | n.4049G>A | non_coding_transcript_exon_variant | Exon 16 of 16 | 2 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome AF: 0.00000206 AC: 3AN: 1456362Hom.: 0 Cov.: 31 AF XY: 0.00000277 AC XY: 2AN XY: 723312
GnomAD4 genome Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at