10-43206029-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_145313.4(RASGEF1A):c.88G>A(p.Gly30Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000335 in 1,610,214 control chromosomes in the GnomAD database, with no homozygous occurrence. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_145313.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RASGEF1A | ENST00000395810.6 | c.88G>A | p.Gly30Arg | missense_variant | Exon 2 of 13 | 1 | NM_145313.4 | ENSP00000379155.1 | ||
RASGEF1A | ENST00000374459.5 | c.112G>A | p.Gly38Arg | missense_variant | Exon 2 of 13 | 2 | ENSP00000363583.1 | |||
RASGEF1A | ENST00000395809.5 | c.88G>A | p.Gly30Arg | missense_variant | Exon 2 of 13 | 2 | ENSP00000379154.1 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152206Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000331 AC: 8AN: 241682Hom.: 0 AF XY: 0.0000381 AC XY: 5AN XY: 131296
GnomAD4 exome AF: 0.0000357 AC: 52AN: 1458008Hom.: 0 Cov.: 32 AF XY: 0.0000331 AC XY: 24AN XY: 724982
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152206Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74358
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.88G>A (p.G30R) alteration is located in exon 1 (coding exon 1) of the RASGEF1A gene. This alteration results from a G to A substitution at nucleotide position 88, causing the glycine (G) at amino acid position 30 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at