chr3:178947865:G>A Detail (hg19) (PIK3CA)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:178,947,865-178,947,865 |
| hg38 | chr3:179,230,077-179,230,077 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_006218.3:c.2740G>A | NP_006209.2:p.Gly914Arg |
| Ensemble | ENST00000263967.4:c.2740G>A | ENST00000263967.4:p.Gly914Arg |
| ENST00000643187.1:c.2740G>A | ENST00000643187.1:p.Gly914Arg |
Summary
MGeND
| Clinical significance |
Pathogenic
other
|
| 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 |
|---|---|---|---|---|---|---|---|---|---|
|
Pathogenic
|
2020/04/20 | ill-defined sites within the digestive system |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
other
|
Primary adenocarcinoma of colon (disorder) |
unknown
|
MGS000021
(TMGS000080) |
Manabu Muto | Kyoto University |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Pathogenic
Likely pathogenic
|
2017-09-01 | criteria provided, multiple submitters, no conflicts | Megalencephaly-capillary malformation-polymicrogyria syndrome |
de novo
germline
somatic
|
Detail |
|
Pathogenic
|
2022-07-05 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
|
Pathogenic
|
no assertion criteria provided |
somatic
|
Detail | ||
|
Likely pathogenic
|
2020-12-20 | criteria provided, single submitter | Cowden syndrome 5 |
de novo
|
Detail |
|
Pathogenic
|
2022-02-12 | reviewed by expert panel | Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes |
germline
|
Detail |
|
Pathogenic
|
2023-08-11 | criteria provided, single submitter | Cowden syndrome |
germline
|
Detail |
|
Pathogenic
|
2019-12-16 | criteria provided, single submitter | Angioosteohypertrophic syndrome |
somatic
|
Detail |
|
Pathogenic
|
no assertion criteria provided |
germline
|
Detail | ||
|
Pathogenic
|
criteria provided, single submitter | PIK3CA related overgrowth syndrome |
de novo
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.360 | Megalencephaly cutis marmorata telangiectatica congenita | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_006218.4(PIK3CA):c.2740G>A (p.Gly914Arg) AND Megalencephaly-capillary malformation-polymicrogyria... | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.2740G>A (p.Gly914Arg) AND not provided | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.2740G>A (p.Gly914Arg) AND Abnormal cardiovascular system morphology | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.2740G>A (p.Gly914Arg) AND Cowden syndrome 5 | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.2740G>A (p.Gly914Arg) AND Overgrowth syndrome and/or cerebral malformations du... | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.2740G>A (p.Gly914Arg) AND Cowden syndrome | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.2740G>A (p.Gly914Arg) AND Angioosteohypertrophic syndrome | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.2740G>A (p.Gly914Arg) AND Abnormal cerebral morphology | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.2740G>A (p.Gly914Arg) AND PIK3CA related overgrowth syndrome | ClinVar | 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
- rs587776932 dbSNP
- Genome
- hg19
- Position
- chr3:178,947,865-178,947,865
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
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