rs139670900
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_147129.5(ALS2CL):c.2198G>T(p.Arg733Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,448 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 16/21 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. R733Q) has been classified as Likely benign.
Frequency
Consequence
NM_147129.5 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ALS2CL | NM_147129.5 | c.2198G>T | p.Arg733Leu | missense_variant | Exon 20 of 26 | ENST00000318962.9 | NP_667340.2 | |
ALS2CL | NM_001190707.2 | c.2198G>T | p.Arg733Leu | missense_variant | Exon 20 of 26 | NP_001177636.1 | ||
ALS2CL | NR_033815.3 | n.2546G>T | non_coding_transcript_exon_variant | Exon 20 of 26 | ||||
ALS2CL | NR_135622.2 | n.2256G>T | non_coding_transcript_exon_variant | Exon 20 of 25 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461448Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 727038
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.