NM_001145648.3:c.3737A>G
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_001145648.3(RASGRF1):āc.3737A>Gā(p.Glu1246Gly) variant causes a missense change. The variant allele was found at a frequency of 0.0000157 in 1,589,500 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001145648.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RASGRF1 | ENST00000558480.7 | c.3737A>G | p.Glu1246Gly | missense_variant | Exon 27 of 27 | 2 | NM_001145648.3 | ENSP00000452781.2 | ||
RASGRF1 | ENST00000394745.3 | c.1433A>G | p.Glu478Gly | missense_variant | Exon 14 of 14 | 1 | ENSP00000378228.3 | |||
RASGRF1 | ENST00000419573.7 | c.3785A>G | p.Glu1262Gly | missense_variant | Exon 28 of 28 | 2 | ENSP00000405963.3 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152174Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000365 AC: 8AN: 218920Hom.: 0 AF XY: 0.0000425 AC XY: 5AN XY: 117718
GnomAD4 exome AF: 0.0000160 AC: 23AN: 1437326Hom.: 0 Cov.: 30 AF XY: 0.0000168 AC XY: 12AN XY: 713232
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152174Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74328
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.3785A>G (p.E1262G) alteration is located in exon 28 (coding exon 28) of the RASGRF1 gene. This alteration results from a A to G substitution at nucleotide position 3785, causing the glutamic acid (E) at amino acid position 1262 to be replaced by a glycine (G). 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