8-89765483-A-G
Variant summary
Our verdict is Uncertain significance. The variant received 2 ACMG points: 2P and 0B. PM2
The NM_003821.6(RIPK2):c.470A>G(p.Glu157Gly) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000317 in 1,577,326 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_003821.6 missense
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Uncertain_significance. The variant received 2 ACMG points.
Variant Effect in Transcripts
ACMG analysis was done for transcript: NM_003821.6. You can select a different transcript below to see updated ACMG assignments.
RefSeq Transcripts
| Sel. | Gene | Transcript | Tags | HGVSc | HGVSp | Effect | Exon Rank | Protein | UniProt |
|---|---|---|---|---|---|---|---|---|---|
| RIPK2 | NM_003821.6 | MANE Select | c.470A>G | p.Glu157Gly | missense | Exon 3 of 11 | NP_003812.1 | ||
| RIPK2 | NM_001375360.1 | c.59A>G | p.Glu20Gly | missense | Exon 2 of 10 | NP_001362289.1 |
Ensembl Transcripts
| Sel. | Gene | Transcript | Tags | HGVSc | HGVSp | Effect | Exon Rank | Protein | UniProt |
|---|---|---|---|---|---|---|---|---|---|
| RIPK2 | ENST00000220751.5 | TSL:1 MANE Select | c.470A>G | p.Glu157Gly | missense | Exon 3 of 11 | ENSP00000220751.4 | ||
| RIPK2 | ENST00000522965.1 | TSL:1 | n.*109A>G | non_coding_transcript_exon | Exon 2 of 10 | ENSP00000429271.1 | |||
| RIPK2 | ENST00000522965.1 | TSL:1 | n.*109A>G | 3_prime_UTR | Exon 2 of 10 | ENSP00000429271.1 |
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 151948Hom.: 0 Cov.: 32 show subpopulations
GnomAD2 exomes AF: 0.00000816 AC: 2AN: 245056 AF XY: 0.00 show subpopulations
GnomAD4 exome AF: 0.00000210 AC: 3AN: 1425378Hom.: 0 Cov.: 25 AF XY: 0.00000141 AC XY: 1AN XY: 710706 show subpopulations
Age Distribution
GnomAD4 genome AF: 0.0000132 AC: 2AN: 151948Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74230 show subpopulations
Age Distribution
ClinVar
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at