chr3:179203765:T>A Detail (hg38) (PIK3CA)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:178,921,553-178,921,553 View the variant detail on this assembly version. |
| hg38 | chr3:179,203,765-179,203,765 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_006218.3:c.1035T>A | NP_006209.2:p.Asn345Lys |
| Ensemble | ENST00000263967.4:c.1035T>A | ENST00000263967.4:p.Asn345Lys |
| ENST00000643187.1:c.1035T>A | ENST00000643187.1:p.Asn345Lys |
Summary
MGeND
| Clinical significance |
Likely pathogenic
|
| Variant entry | 2 |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Likely pathogenic
|
2018/03/22 | Tongue cancer |
somatic
|
MGS000017
(TMGS000052) |
Kohei Miyazono | Tokyo University | |||
|
Likely pathogenic
|
salivary gland neoplasms |
somatic
|
MGS000044
(TMGS000097) |
Kohei Miyazono | Tokyo University |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | adenoid cystic carcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Neoplasm of the large intestine |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | uterine carcinosarcoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | glioblastoma |
somatic
|
Detail |
|
Likely 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 | Malignant neoplasm of body of uterus |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | prostate adenocarcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | lung adenocarcinoma |
somatic
|
Detail |
Pathogenic
|
2020-02-01 | criteria provided, single submitter | not provided |
germline
|
Detail |
|
Pathogenic
|
no assertion criteria provided |
somatic
|
Detail | ||
|
Pathogenic
|
2022-03-23 | criteria provided, single submitter | Congenital macrodactylia,CLAPO syndrome,seborrheic keratosis,CLOVES syndrome,Cowden syndrome 5,hepatocellular carcinoma,Neoplasm of ovary,epidermal nevus,Gastric cancer,lung cancer,colorectal cancer,Familial cancer of breast,Megalencephaly-capillary malformation-polymicrogyria syndrome |
unknown
|
Detail |
|
Pathogenic
|
2022-03-23 | criteria provided, single submitter | Congenital macrodactylia,CLAPO syndrome,seborrheic keratosis,CLOVES syndrome,Cowden syndrome 5,hepatocellular carcinoma,Neoplasm of ovary,epidermal nevus,Gastric cancer,lung cancer,colorectal cancer,Familial cancer of breast,Megalencephaly-capillary malformation-polymicrogyria syndrome |
unknown
|
Detail |
|
Pathogenic
|
2022-03-23 | criteria provided, single submitter | Congenital macrodactylia,CLAPO syndrome,seborrheic keratosis,CLOVES syndrome,Cowden syndrome 5,hepatocellular carcinoma,Neoplasm of ovary,epidermal nevus,Gastric cancer,lung cancer,colorectal cancer,Familial cancer of breast,Megalencephaly-capillary malformation-polymicrogyria syndrome |
unknown
|
Detail |
|
Pathogenic
|
2022-03-23 | criteria provided, single submitter | Congenital macrodactylia,CLAPO syndrome,seborrheic keratosis,CLOVES syndrome,Cowden syndrome 5,hepatocellular carcinoma,Neoplasm of ovary,epidermal nevus,Gastric cancer,lung cancer,colorectal cancer,Familial cancer of breast,Megalencephaly-capillary malformation-polymicrogyria syndrome |
unknown
|
Detail |
|
Pathogenic
|
2022-03-23 | criteria provided, single submitter | Congenital macrodactylia,CLAPO syndrome,seborrheic keratosis,CLOVES syndrome,Cowden syndrome 5,hepatocellular carcinoma,Neoplasm of ovary,epidermal nevus,Gastric cancer,lung cancer,colorectal cancer,Familial cancer of breast,Megalencephaly-capillary malformation-polymicrogyria syndrome |
unknown
|
Detail |
|
Pathogenic
|
2022-03-23 | criteria provided, single submitter | Congenital macrodactylia,CLAPO syndrome,seborrheic keratosis,CLOVES syndrome,Cowden syndrome 5,hepatocellular carcinoma,Neoplasm of ovary,epidermal nevus,Gastric cancer,lung cancer,colorectal cancer,Familial cancer of breast,Megalencephaly-capillary malformation-polymicrogyria syndrome |
unknown
|
Detail |
|
Pathogenic
|
2022-03-23 | criteria provided, single submitter | Congenital macrodactylia,CLAPO syndrome,seborrheic keratosis,CLOVES syndrome,Cowden syndrome 5,hepatocellular carcinoma,Neoplasm of ovary,epidermal nevus,Gastric cancer,lung cancer,colorectal cancer,Familial cancer of breast,Megalencephaly-capillary malformation-polymicrogyria syndrome |
unknown
|
Detail |
|
Pathogenic
|
2022-03-23 | criteria provided, single submitter | Congenital macrodactylia,CLAPO syndrome,seborrheic keratosis,CLOVES syndrome,Cowden syndrome 5,hepatocellular carcinoma,Neoplasm of ovary,epidermal nevus,Gastric cancer,lung cancer,colorectal cancer,Familial cancer of breast,Megalencephaly-capillary malformation-polymicrogyria syndrome |
unknown
|
Detail |
|
Pathogenic
|
2022-03-23 | criteria provided, single submitter | Congenital macrodactylia,CLAPO syndrome,seborrheic keratosis,CLOVES syndrome,Cowden syndrome 5,hepatocellular carcinoma,Neoplasm of ovary,epidermal nevus,Gastric cancer,lung cancer,colorectal cancer,Familial cancer of breast,Megalencephaly-capillary malformation-polymicrogyria syndrome |
unknown
|
Detail |
|
Pathogenic
|
2022-03-23 | criteria provided, single submitter | Congenital macrodactylia,CLAPO syndrome,seborrheic keratosis,CLOVES syndrome,Cowden syndrome 5,hepatocellular carcinoma,Neoplasm of ovary,epidermal nevus,Gastric cancer,lung cancer,colorectal cancer,Familial cancer of breast,Megalencephaly-capillary malformation-polymicrogyria syndrome |
unknown
|
Detail |
|
Pathogenic
|
2022-03-23 | criteria provided, single submitter | Congenital macrodactylia,CLAPO syndrome,seborrheic keratosis,CLOVES syndrome,Cowden syndrome 5,hepatocellular carcinoma,Neoplasm of ovary,epidermal nevus,Gastric cancer,lung cancer,colorectal cancer,Familial cancer of breast,Megalencephaly-capillary malformation-polymicrogyria syndrome |
unknown
|
Detail |
|
Pathogenic
|
2022-03-23 | criteria provided, single submitter | Congenital macrodactylia,CLAPO syndrome,seborrheic keratosis,CLOVES syndrome,Cowden syndrome 5,hepatocellular carcinoma,Neoplasm of ovary,epidermal nevus,Gastric cancer,lung cancer,colorectal cancer,Familial cancer of breast,Megalencephaly-capillary malformation-polymicrogyria syndrome |
unknown
|
Detail |
|
Pathogenic
|
2022-03-23 | criteria provided, single submitter | Congenital macrodactylia,CLAPO syndrome,seborrheic keratosis,CLOVES syndrome,Cowden syndrome 5,hepatocellular carcinoma,Neoplasm of ovary,epidermal nevus,Gastric cancer,lung cancer,colorectal cancer,Familial cancer of breast,Megalencephaly-capillary malformation-polymicrogyria syndrome |
unknown
|
Detail |
|
Pathogenic
|
2023-10-27 | criteria provided, single submitter | PIK3CA related overgrowth syndrome |
somatic
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_006218.4(PIK3CA):c.1035T>A (p.Asn345Lys) AND Adenoid cystic carcinoma | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1035T>A (p.Asn345Lys) AND Neoplasm of the large intestine | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1035T>A (p.Asn345Lys) AND Uterine carcinosarcoma | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1035T>A (p.Asn345Lys) AND Glioblastoma | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1035T>A (p.Asn345Lys) AND Breast neoplasm | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1035T>A (p.Asn345Lys) AND Squamous cell carcinoma of the head and neck | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1035T>A (p.Asn345Lys) AND Gastric adenocarcinoma | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1035T>A (p.Asn345Lys) AND Malignant neoplasm of body of uterus | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1035T>A (p.Asn345Lys) AND Prostate adenocarcinoma | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1035T>A (p.Asn345Lys) AND Lung adenocarcinoma | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1035T>A (p.Asn345Lys) AND not provided | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1035T>A (p.Asn345Lys) AND Abnormal cardiovascular system morphology | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1035T>A (p.Asn345Lys) AND multiple conditions | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1035T>A (p.Asn345Lys) AND multiple conditions | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1035T>A (p.Asn345Lys) AND multiple conditions | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1035T>A (p.Asn345Lys) AND multiple conditions | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1035T>A (p.Asn345Lys) AND multiple conditions | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1035T>A (p.Asn345Lys) AND multiple conditions | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1035T>A (p.Asn345Lys) AND multiple conditions | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1035T>A (p.Asn345Lys) AND multiple conditions | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1035T>A (p.Asn345Lys) AND multiple conditions | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1035T>A (p.Asn345Lys) AND multiple conditions | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1035T>A (p.Asn345Lys) AND multiple conditions | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1035T>A (p.Asn345Lys) AND multiple conditions | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1035T>A (p.Asn345Lys) AND multiple conditions | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1035T>A (p.Asn345Lys) AND PIK3CA related overgrowth syndrome | 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
- rs121913284 dbSNP
- Genome
- hg38
- Position
- chr3:179,203,765-179,203,765
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- A
- Variant (CIViC) (CIViC Variant)
- N345K
- Transcript 1 (CIViC Variant)
- ENST00000263967.3
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/930
Genome browser