chr16-3606624-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_032444.4(SLX4):c.610C>A(p.Arg204Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 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. R204C) has been classified as Benign.
Frequency
Consequence
NM_032444.4 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 | UniProt |
---|---|---|---|---|---|---|---|
SLX4 | NM_032444.4 | c.610C>A | p.Arg204Ser | missense_variant | 3/15 | ENST00000294008.4 | |
SLX4 | XM_024450471.2 | c.610C>A | p.Arg204Ser | missense_variant | 3/15 | ||
SLX4 | XM_011522715.4 | c.610C>A | p.Arg204Ser | missense_variant | 3/15 | ||
SLX4 | XR_007064923.1 | n.1259C>A | non_coding_transcript_exon_variant | 3/13 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SLX4 | ENST00000294008.4 | c.610C>A | p.Arg204Ser | missense_variant | 3/15 | 5 | NM_032444.4 | P1 | |
SLX4 | ENST00000466154.5 | n.905C>A | non_coding_transcript_exon_variant | 2/7 | 1 | ||||
SLX4 | ENST00000486524.1 | n.1238C>A | non_coding_transcript_exon_variant | 3/4 | 2 | ||||
SLX4 | ENST00000697858.1 | upstream_gene_variant |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 33
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.