rs201192909
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_032444.4(SLX4):c.833G>T(p.Arg278Leu) 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 1,461,852 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 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. R278Q) has been classified as Likely benign.
Frequency
Consequence
NM_032444.4 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 | UniProt |
---|---|---|---|---|---|---|---|
SLX4 | NM_032444.4 | c.833G>T | p.Arg278Leu | missense_variant | 4/15 | ENST00000294008.4 | |
SLX4 | XM_024450471.2 | c.833G>T | p.Arg278Leu | missense_variant | 4/15 | ||
SLX4 | XM_011522715.4 | c.833G>T | p.Arg278Leu | missense_variant | 4/15 | ||
SLX4 | XR_007064923.1 | n.1482G>T | non_coding_transcript_exon_variant | 4/13 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SLX4 | ENST00000294008.4 | c.833G>T | p.Arg278Leu | missense_variant | 4/15 | 5 | NM_032444.4 | P1 | |
SLX4 | ENST00000466154.5 | n.1128G>T | non_coding_transcript_exon_variant | 3/7 | 1 | ||||
SLX4 | ENST00000486524.1 | n.1461G>T | non_coding_transcript_exon_variant | 4/4 | 2 | ||||
SLX4 | ENST00000697858.1 | n.174G>T | non_coding_transcript_exon_variant | 2/3 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461852Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 727216
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.