chr4-81440911-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_152545.3(RASGEF1B):c.1027A>G(p.Ser343Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000241 in 1,611,198 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_152545.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RASGEF1B | NM_152545.3 | c.1027A>G | p.Ser343Gly | missense_variant | 10/14 | ENST00000264400.7 | |
RASGEF1B | NM_001300735.2 | c.1024A>G | p.Ser342Gly | missense_variant | 10/14 | ||
RASGEF1B | NM_001300736.2 | c.901A>G | p.Ser301Gly | missense_variant | 9/13 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RASGEF1B | ENST00000264400.7 | c.1027A>G | p.Ser343Gly | missense_variant | 10/14 | 2 | NM_152545.3 | A1 |
Frequencies
GnomAD3 genomes ? AF: 0.000217 AC: 33AN: 152206Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000151 AC: 38AN: 251030Hom.: 0 AF XY: 0.000177 AC XY: 24AN XY: 135726
GnomAD4 exome AF: 0.000244 AC: 356AN: 1458992Hom.: 1 Cov.: 28 AF XY: 0.000219 AC XY: 159AN XY: 725998
GnomAD4 genome ? AF: 0.000217 AC: 33AN: 152206Hom.: 0 Cov.: 32 AF XY: 0.000215 AC XY: 16AN XY: 74368
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Mar 24, 2023 | The c.1027A>G (p.S343G) alteration is located in exon 10 (coding exon 9) of the RASGEF1B gene. This alteration results from a A to G substitution at nucleotide position 1027, causing the serine (S) at amino acid position 343 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