rs3825569
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001134888.3(RTL1):c.828A>T(p.Glu276Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. E276E) has been classified as Benign.
Frequency
Consequence
NM_001134888.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RTL1 | NM_001134888.3 | c.828A>T | p.Glu276Asp | missense_variant | 4/4 | ENST00000649591.1 | |
RTL1 | XM_047431358.1 | c.828A>T | p.Glu276Asp | missense_variant | 3/3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RTL1 | ENST00000649591.1 | c.828A>T | p.Glu276Asp | missense_variant | 4/4 | NM_001134888.3 | P1 | ||
MIR493HG | ENST00000699458.1 | n.905T>A | non_coding_transcript_exon_variant | 1/6 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Cov.: 84
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at