chr3:178936094:C>A Detail (hg19) (PIK3CA)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:178,936,094-178,936,094 |
| hg38 | chr3:179,218,306-179,218,306 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_006218.3:c.1636C>A | NP_006209.2:p.Gln546Lys |
| Ensemble | ENST00000263967.4:c.1636C>A | ENST00000263967.4:p.Gln546Lys |
| ENST00000643187.1:c.1636C>A | ENST00000643187.1:p.Gln546Lys |
Summary
MGeND
| Clinical significance |
not provided
other
|
| Variant entry | 27 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|
|
not provided
|
fundus of stomach |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
body of stomach |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
transverse colon |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
descending colon |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
stomach, unspecified |
not provided
|
MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
transverse colon |
not provided
|
MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
other
|
Adenocarcinoma of rectum (disorder) |
unknown
|
MGS000021
(TMGS000080) |
Manabu Muto | Kyoto University | ||||
|
not provided
|
Ovarian cancer |
somatic
|
MGS000018
(TMGS000110) |
Hitoshi Nakagama | National Cancer Center Japan |
30742731
|
|||
|
not provided
|
caecum |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
ascending colon |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
transverse colon |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
descending colon |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
sigmoid colon |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
colon, unspecified |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
malignant neoplasm of rectum |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
bronchus or lung, unspecified |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Pathogenic
|
2004-11-01 | no assertion criteria provided | OVARIAN CANCER, EPITHELIAL, SOMATIC |
somatic
|
Detail |
|
Pathogenic
|
2004-11-01 | no assertion criteria provided | Carcinoma of colon |
somatic
|
Detail |
Likely pathogenic
|
2014-12-01 | no assertion criteria provided | PIK3CA related overgrowth syndrome |
somatic
|
Detail |
|
Likely pathogenic
|
no assertion criteria provided | Malignant tumor of prostate |
somatic
|
Detail | |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | glioblastoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | medulloblastoma |
somatic
|
Detail |
|
Pathogenic
|
2016-05-31 | no assertion criteria provided | Neoplasm of the large intestine |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | prostate adenocarcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided |
somatic
|
Detail | |
|
Likely pathogenic
|
2015-07-14 | no assertion criteria provided | lung carcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Malignant melanoma of skin |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Neoplasm of brain |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Malignant neoplasm of body of uterus |
somatic
|
Detail |
|
Pathogenic
|
2018-12-01 | no assertion criteria provided | Neoplasm of ovary |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | uterine carcinosarcoma |
somatic
|
Detail |
|
Pathogenic
|
2016-05-31 | no assertion criteria provided | Breast neoplasm |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Squamous cell carcinoma of the head and neck |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | gastric adenocarcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Neoplasm of uterine cervix |
somatic
|
Detail |
|
Pathogenic
|
2021-04-06 | criteria provided, single submitter |
somatic
|
Detail | |
Conflicting interpretations of pathogenicity
|
2021-12-28 | criteria provided, conflicting interpretations | not provided |
germline
somatic
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.120 | breast adenocarcinoma | NA | CLINVAR | Detail | |
| 0.131 | colon carcinoma | NA | CLINVAR | Detail | |
| 0.128 | Epithelial ovarian cancer | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_006218.4(PIK3CA):c.1636C>A (p.Gln546Lys) AND OVARIAN CANCER, EPITHELIAL, SOMATIC | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1636C>A (p.Gln546Lys) AND Carcinoma of colon | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1636C>A (p.Gln546Lys) AND PIK3CA related overgrowth syndrome | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1636C>A (p.Gln546Lys) AND Malignant tumor of prostate | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1636C>A (p.Gln546Lys) AND Glioblastoma | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1636C>A (p.Gln546Lys) AND Medulloblastoma | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1636C>A (p.Gln546Lys) AND Neoplasm of the large intestine | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1636C>A (p.Gln546Lys) AND Prostate adenocarcinoma | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1636C>A (p.Gln546Lys) AND Transitional cell carcinoma of the bladder | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1636C>A (p.Gln546Lys) AND Lung carcinoma | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1636C>A (p.Gln546Lys) AND Malignant melanoma of skin | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1636C>A (p.Gln546Lys) AND Neoplasm of brain | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1636C>A (p.Gln546Lys) AND Malignant neoplasm of body of uterus | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1636C>A (p.Gln546Lys) AND Neoplasm of ovary | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1636C>A (p.Gln546Lys) AND Uterine carcinosarcoma | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1636C>A (p.Gln546Lys) AND Breast neoplasm | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1636C>A (p.Gln546Lys) AND Squamous cell carcinoma of the head and neck | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1636C>A (p.Gln546Lys) AND Gastric adenocarcinoma | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1636C>A (p.Gln546Lys) AND Neoplasm of uterine cervix | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1636C>A (p.Gln546Lys) AND Segmental undergrowth associated with mainly venous ... | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1636C>A (p.Gln546Lys) AND not provided | ClinVar | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | 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
- rs121913286 dbSNP
- Genome
- hg19
- Position
- chr3:178,936,094-178,936,094
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- A
- Variant (CIViC) (CIViC Variant)
- Q546K
- Transcript 1 (CIViC Variant)
- ENST00000263967.3
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/885
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