chr3-108554425-T-C
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBS1BS2
The NM_020890.3(CIP2A):c.2275A>G(p.Ile759Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00921 in 1,567,210 control chromosomes in the GnomAD database, including 109 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★). Another nucleotide change resulting in the same amino acid substitution has been previously reported as Likely benign in UniProt.
Frequency
Consequence
NM_020890.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CIP2A | NM_020890.3 | c.2275A>G | p.Ile759Val | missense_variant | Exon 18 of 21 | ENST00000295746.13 | NP_065941.2 | |
CIP2A | XM_006713716.4 | c.2272A>G | p.Ile758Val | missense_variant | Exon 18 of 21 | XP_006713779.1 | ||
CIP2A | XM_011513057.3 | c.1333A>G | p.Ile445Val | missense_variant | Exon 11 of 14 | XP_011511359.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CIP2A | ENST00000295746.13 | c.2275A>G | p.Ile759Val | missense_variant | Exon 18 of 21 | 1 | NM_020890.3 | ENSP00000295746.7 | ||
CIP2A | ENST00000491772.5 | c.1798A>G | p.Ile600Val | missense_variant | Exon 18 of 21 | 1 | ENSP00000419487.1 | |||
CIP2A | ENST00000481530.5 | n.*1845A>G | non_coding_transcript_exon_variant | Exon 18 of 21 | 1 | ENSP00000417297.1 | ||||
CIP2A | ENST00000481530.5 | n.*1845A>G | 3_prime_UTR_variant | Exon 18 of 21 | 1 | ENSP00000417297.1 |
Frequencies
GnomAD3 genomes AF: 0.00849 AC: 1293AN: 152222Hom.: 8 Cov.: 31
GnomAD3 exomes AF: 0.00977 AC: 2276AN: 233056Hom.: 17 AF XY: 0.0106 AC XY: 1327AN XY: 125374
GnomAD4 exome AF: 0.00929 AC: 13143AN: 1414870Hom.: 101 Cov.: 24 AF XY: 0.00954 AC XY: 6722AN XY: 704944
GnomAD4 genome AF: 0.00849 AC: 1293AN: 152340Hom.: 8 Cov.: 31 AF XY: 0.00860 AC XY: 641AN XY: 74506
ClinVar
Submissions by phenotype
not provided Benign:1
CIP2A: BP4, BS1, BS2 -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at