rs41267671
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The ENST00000370765.11(DST):c.893G>T(p.Arg298Leu) 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 1,461,728 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. R298H) has been classified as Uncertain significance.
Frequency
Consequence
ENST00000370765.11 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DST | NM_001374736.1 | c.2504G>T | p.Arg835Leu | missense_variant | 19/104 | ENST00000680361.1 | NP_001361665.1 | |
DST | NM_001723.7 | c.893G>T | p.Arg298Leu | missense_variant | 5/24 | ENST00000370765.11 | NP_001714.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DST | ENST00000680361.1 | c.2504G>T | p.Arg835Leu | missense_variant | 19/104 | NM_001374736.1 | ENSP00000505098 | |||
DST | ENST00000370765.11 | c.893G>T | p.Arg298Leu | missense_variant | 5/24 | 1 | NM_001723.7 | ENSP00000359801 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000342 AC: 5AN: 1461728Hom.: 0 Cov.: 33 AF XY: 0.00000413 AC XY: 3AN XY: 727168
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at