20-63695185-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001283009.2(RTEL1):āc.3463G>Cā(p.Val1155Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000342 in 1,459,940 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001283009.2 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 |
---|---|---|---|---|---|---|---|---|
RTEL1 | NM_001283009.2 | c.3463G>C | p.Val1155Leu | missense_variant | 33/35 | ENST00000360203.11 | NP_001269938.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RTEL1 | ENST00000360203.11 | c.3463G>C | p.Val1155Leu | missense_variant | 33/35 | 5 | NM_001283009.2 | ENSP00000353332.5 | ||
RTEL1 | ENST00000508582.7 | c.3535G>C | p.Val1179Leu | missense_variant | 33/35 | 2 | ENSP00000424307.2 | |||
RTEL1 | ENST00000370018.7 | c.3463G>C | p.Val1155Leu | missense_variant | 33/35 | 1 | ENSP00000359035.3 | |||
RTEL1-TNFRSF6B | ENST00000492259.6 | n.*1065G>C | non_coding_transcript_exon_variant | 30/35 | 5 | ENSP00000457428.1 | ||||
RTEL1-TNFRSF6B | ENST00000492259.6 | n.*1065G>C | 3_prime_UTR_variant | 30/35 | 5 | ENSP00000457428.1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000816 AC: 2AN: 245236Hom.: 0 AF XY: 0.0000150 AC XY: 2AN XY: 133682
GnomAD4 exome AF: 0.00000342 AC: 5AN: 1459940Hom.: 0 Cov.: 35 AF XY: 0.00000688 AC XY: 5AN XY: 726280
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at