15-79025333-C-T
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 1P and 5B. PP2BP4BS2
The NM_001145648.3(RASGRF1):c.1523G>A(p.Gly508Glu) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000617 in 1,457,890 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts 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. G508V) has been classified as Uncertain significance.
Frequency
Consequence
NM_001145648.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RASGRF1 | NM_001145648.3 | c.1523G>A | p.Gly508Glu | missense_variant | 10/27 | ENST00000558480.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RASGRF1 | ENST00000558480.7 | c.1523G>A | p.Gly508Glu | missense_variant | 10/27 | 2 | NM_001145648.3 | P1 | |
RASGRF1 | ENST00000560334.5 | n.1384G>A | non_coding_transcript_exon_variant | 9/24 | 1 | ||||
RASGRF1 | ENST00000419573.7 | c.1523G>A | p.Gly508Glu | missense_variant | 10/28 | 2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000400 AC: 1AN: 249838Hom.: 0 AF XY: 0.00000741 AC XY: 1AN XY: 135038
GnomAD4 exome AF: 0.00000617 AC: 9AN: 1457890Hom.: 0 Cov.: 31 AF XY: 0.00000414 AC XY: 3AN XY: 724638
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at