rs548424658
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BP4_Strong
The NM_001114753.3(ENG):c.596G>T(p.Arg199Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. 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. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R199H) has been classified as Likely benign.
Frequency
Consequence
NM_001114753.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ENG | NM_001114753.3 | c.596G>T | p.Arg199Leu | missense_variant | 5/15 | ENST00000373203.9 | |
ENG | NM_000118.4 | c.596G>T | p.Arg199Leu | missense_variant | 5/14 | ||
ENG | NM_001278138.2 | c.50G>T | p.Arg17Leu | missense_variant | 5/15 | ||
ENG | NM_001406715.1 | c.596G>T | p.Arg199Leu | missense_variant | 5/8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENG | ENST00000373203.9 | c.596G>T | p.Arg199Leu | missense_variant | 5/15 | 1 | NM_001114753.3 | P2 | |
ENG | ENST00000344849.4 | c.596G>T | p.Arg199Leu | missense_variant | 5/14 | 1 | A2 | ||
ENG | ENST00000480266.6 | c.50G>T | p.Arg17Leu | missense_variant | 5/15 | 2 | |||
ENG | ENST00000462196.1 | downstream_gene_variant | 3 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1441976Hom.: 0 Cov.: 34 AF XY: 0.00 AC XY: 0AN XY: 715584
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at