chr21-46221880-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_002340.6(LSS):c.524G>T(p.Arg175Leu) variant causes a missense change. 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. R175Q) has been classified as Benign.
Frequency
Consequence
NM_002340.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
LSS | NM_002340.6 | c.524G>T | p.Arg175Leu | missense_variant | 5/22 | ENST00000397728.8 | |
LSS | NM_001001438.3 | c.524G>T | p.Arg175Leu | missense_variant | 5/23 | ||
LSS | NM_001145436.2 | c.491G>T | p.Arg164Leu | missense_variant | 5/22 | ||
LSS | NM_001145437.2 | c.284G>T | p.Arg95Leu | missense_variant | 4/21 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
LSS | ENST00000397728.8 | c.524G>T | p.Arg175Leu | missense_variant | 5/22 | 1 | NM_002340.6 | P1 | |
ENST00000626933.1 | n.252C>A | non_coding_transcript_exon_variant | 2/4 | 5 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 34
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at