chr3:179199148:G>A Detail (hg38) (PIK3CA)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:178,916,936-178,916,936 View the variant detail on this assembly version. |
| hg38 | chr3:179,199,148-179,199,148 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_006218.3:c.323G>A | NP_006209.2:p.Arg108His |
| Ensemble | ENST00000263967.4:c.323G>A | ENST00000263967.4:p.Arg108His |
| ENST00000643187.1:c.323G>A | ENST00000643187.1:p.Arg108His |
Summary
MGeND
| Clinical significance |
Pathogenic
|
| Variant entry | 1 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance | Conflicting classifications of pathogenicity |
| Review star |  |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Pathogenic
|
colorectal neoplasms, hereditary nonpolyposis |
somatic
|
MGS000043
(TMGS000096) |
Kohei Miyazono | Tokyo University |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2023-05-14 | criteria provided, single submitter | not provided |
germline
|
Detail |
Uncertain significance
|
2019-09-20 | criteria provided, single submitter | not specified |
germline
|
Detail |
Pathogenic
Likely pathogenic
|
2023-01-13 | criteria provided, multiple submitters, no conflicts | Megalencephaly-capillary malformation-polymicrogyria syndrome |
germline
unknown
|
Detail |
|
Likely pathogenic
|
2022-07-29 | criteria provided, single submitter | Cowden syndrome |
germline
|
Detail |
|
Likely pathogenic
|
2021-12-08 | criteria provided, single submitter |
unknown
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_006218.4(PIK3CA):c.323G>A (p.Arg108His) AND not provided | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.323G>A (p.Arg108His) AND not specified | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.323G>A (p.Arg108His) AND Megalencephaly-capillary malformation-polymicrogyria ... | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.323G>A (p.Arg108His) AND Cowden syndrome | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.323G>A (p.Arg108His) AND See cases | ClinVar | Detail |
Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs886042002 dbSNP
- Genome
- hg38
- Position
- chr3:179,199,148-179,199,148
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
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