| Variant ID | 1514 |
|---|---|
| Entrez Gene ID | 5290 |
| Gene | PIK3CA (GeneCards) |
| Location | hg19 3:178952085-178952085
hg38 3:179234297-179234297 |
| Disease | macrodactyly (view all the variants in this disease) |
| Method | Sanger |
| Mutation(HGVS format) | NC_000003.11:g.178952085 A>T (Genome Assembly: hg19) |
| Exon or Intron | NA |
|---|---|
| Position in protein | 1047 |
| Amino acid changes in protein | H > L |
| Position in cDNA | 3140 |
| Changes in cDNA | A > T |
| mRNA accession | NM_006218.2 |
| mRNA length | 9104 |
| Reference length | 198022430 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs121913279 |
| Variant IDs in COSMIC (version 89) | 776 |
| Variant occurences in COSMIC | 34(breast)|2(stomach)|1(kidney)|5(urinary_tract)|1(soft_tissue)|2(pancreas)|3(oesophagus)|1(skin)|3(lung)|1(cervix)|8(upper_aerodigestive_tract)|8(large_intestine)|5(central_nervous_system)|3(biliary_tract)|8(endometrium) |
| EIGEN score | -0.3117 |
| CADD Raw score (version 1.3) | 1.201246 (Deleterious) |
| FATHMM raw prediction score | 0.96152 (Tolerated) |
| SIFT score | 1 (Tolerated) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | -0.895 (Tolerated) |
| PROVEAN score | 1.49 (Tolerated) |
| MetaSVM score | -0.77 (Tolerated) |
| MetaLR score | 0.142 (Tolerated) |
| MCAP score | 0.048 (Deleterious) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 6.08 |
| PhyloP score based on multiple alignment of 100 vertebrates | 8.845 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 16.651 |
| Deleterious probability by iFish2 | 0.9073 (Deleterious) |
| Deleterious probability by DeFine | 0.9604 (Deleterious) |
| Entrez Gene ID | 5290 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PIK3CA (GeneCards) |
| Number of variants in PIK3CA in this database | 109 (view all the variants) |
| Full name | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha |
| Band | 3q26.32 |
| Other IDs | Vega: OTTHUMG00000157311 OMIM: 171834 HGNC: HGNC:8975 Ensembl: ENSG00000121879 |
| Other names | MCM, CWS5, MCAP, PI3K, CLOVE, MCMTC, PI3K-alpha, p110-alpha |
| Summary | Phosphatidylinositol 3-kinase is composed of an 85 kDa regulatory subunit and a 110 kDa catalytic subunit. The protein encoded by this gene represents the catalytic subunit, which uses ATP to phosphorylate PtdIns, PtdIns4P and PtdIns(4,5)P2. This gene has been found to be oncogenic and has been implicated in cervical cancers. A pseudogene of this gene has been defined on chromosome 22. [provided by RefSeq, Apr 2016] |
| Individual ID | 29661094.09 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29661094 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | macrodactyly (view all the variants in this disease) |
| OMIM ID | 155500 |
| Pubmed ID | 29661094 |
|---|---|
| Title | An investigation of PIK3CA mutations in isolated macrodactyly. |
| Journal | Journal of Hand Surgery European Volume |
| Publication date | 2018.01 |
| Disease | macrodactyly |
| Number of cases | Male cases: 4; Female cases: 5; |