chr3-108579413-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_020890.3(CIP2A):c.686G>C(p.Arg229Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic 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. R229Q) has been classified as Likely benign.
Frequency
Consequence
NM_020890.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CIP2A | NM_020890.3 | c.686G>C | p.Arg229Pro | missense_variant | 7/21 | ENST00000295746.13 | |
CIP2A | XM_006713716.4 | c.683G>C | p.Arg228Pro | missense_variant | 7/21 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CIP2A | ENST00000295746.13 | c.686G>C | p.Arg229Pro | missense_variant | 7/21 | 1 | NM_020890.3 | P1 | |
CIP2A | ENST00000491772.5 | c.209G>C | p.Arg70Pro | missense_variant | 7/21 | 1 | |||
CIP2A | ENST00000487834.5 | n.955G>C | non_coding_transcript_exon_variant | 7/14 | 1 | ||||
CIP2A | ENST00000481530.5 | c.*256G>C | 3_prime_UTR_variant, NMD_transcript_variant | 7/21 | 1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 29
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at