rs1057519949
Variant summary
Our verdict is Pathogenic. Variant got 10 ACMG points: 10P and 0B. PM1PM2PM5PP3_Strong
The NM_005614.4(RHEB):c.103T>C(p.Tyr35His) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic 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. Y35N) has been classified as Likely pathogenic.
Frequency
Consequence
NM_005614.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Pathogenic. Variant got 10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RHEB | NM_005614.4 | c.103T>C | p.Tyr35His | missense_variant | 2/8 | ENST00000262187.10 | |
RHEB | XM_011516457.3 | c.70T>C | p.Tyr24His | missense_variant | 3/9 | ||
RHEB | XM_024446854.2 | c.70T>C | p.Tyr24His | missense_variant | 3/9 | ||
RHEB | XM_047420685.1 | c.70T>C | p.Tyr24His | missense_variant | 3/9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RHEB | ENST00000262187.10 | c.103T>C | p.Tyr35His | missense_variant | 2/8 | 1 | NM_005614.4 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Cov.: 29
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.