7-151467187-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_005614.4(RHEB):āc.487A>Gā(p.Ile163Val) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,302 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_005614.4 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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RHEB | NM_005614.4 | c.487A>G | p.Ile163Val | missense_variant | 8/8 | ENST00000262187.10 | NP_005605.1 | |
RHEB | XM_011516457.3 | c.454A>G | p.Ile152Val | missense_variant | 9/9 | XP_011514759.1 | ||
RHEB | XM_024446854.2 | c.454A>G | p.Ile152Val | missense_variant | 9/9 | XP_024302622.1 | ||
RHEB | XM_047420685.1 | c.454A>G | p.Ile152Val | missense_variant | 9/9 | XP_047276641.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RHEB | ENST00000262187.10 | c.487A>G | p.Ile163Val | missense_variant | 8/8 | 1 | NM_005614.4 | ENSP00000262187.5 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251146Hom.: 0 AF XY: 0.00000737 AC XY: 1AN XY: 135722
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461302Hom.: 0 Cov.: 29 AF XY: 0.00000138 AC XY: 1AN XY: 727002
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not provided Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | GeneDx | Jan 19, 2023 | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at