chr21-41766883-C-G
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 2P and 3B. PM2BP4_ModerateBP7
The NM_020639.3(RIPK4):c.159G>C(p.Ser53=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000373 in 1,609,760 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. S53S) has been classified as Benign.
Frequency
Consequence
NM_020639.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RIPK4 | NM_020639.3 | c.159G>C | p.Ser53= | synonymous_variant | 1/8 | ENST00000332512.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RIPK4 | ENST00000332512.8 | c.159G>C | p.Ser53= | synonymous_variant | 1/8 | 1 | NM_020639.3 | P1 | |
RIPK4 | ENST00000352483.3 | c.159G>C | p.Ser53= | synonymous_variant | 1/9 | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.00000658 AC: 1AN: 151964Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000125 AC: 3AN: 239656Hom.: 0 AF XY: 0.00000760 AC XY: 1AN XY: 131546
GnomAD4 exome AF: 0.00000343 AC: 5AN: 1457796Hom.: 0 Cov.: 33 AF XY: 0.00000276 AC XY: 2AN XY: 725190
GnomAD4 genome ? AF: 0.00000658 AC: 1AN: 151964Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74240
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at