Evidence Repository
The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]
  • Gene obtained from curated document aligns with the Allele Registry but not with ClinVar data
  • No CSPEC related information was provided by the message!
  • No CSPEC computed assertion could be determined for this classification!
  • See Evidence submitted by expert panel for details.

Variant: NM_006218.3(PIK3CA):c.2198A>G (p.Lys733Arg)

CA2710903

456537 (ClinVar)

Gene: PIK3CA
Condition: cerebral malformation
Inheritance Mode: Autosomal dominant inheritance (mosaic)
Link to MONDO
UUID: 5b3b96cd-ec1e-4db0-9843-d360ef02fbd0
Approved on: 2019-08-28
Published on: 2021-09-27

HGVS expressions

NM_006218.3:c.2198A>G
NM_006218.3(PIK3CA):c.2198A>G (p.Lys733Arg)
NC_000003.12:g.179224091A>G
CM000665.2:g.179224091A>G
NC_000003.11:g.178941879A>G
CM000665.1:g.178941879A>G
NC_000003.10:g.180424573A>G
NG_012113.2:g.80569A>G
ENST00000263967.4:c.2198A>G
ENST00000462255.2:n.660A>G
ENST00000643187.1:c.2198A>G
ENST00000674534.1:n.3106A>G
ENST00000674622.1:c.619A>G
ENST00000675467.1:n.5005A>G
ENST00000675786.1:c.*765A>G
ENST00000263967.3:c.2198A>G
ENST00000462255.1:n.472A>G
NM_006218.2:c.2198A>G
NM_006218.4:c.2198A>G
More

Benign

Met criteria codes 3
PS4_Supporting BA1 PP2
Not Met criteria codes 23
PVS1 BS2 BS1 BS4 BS3 BP4 BP3 BP1 BP2 BP5 BP7 PM1 PM3 PM5 PM4 PS1 PS2 PS3 PM6 PM2 PP1 PP3 PP4

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specifications for this VCEP
Evidence submitted by expert panel
Brain Malformations VCEP
Met criteria codes
PS4_Supporting
2 tumor samples present in COSMIC with unknown somatic sample, but likely germline
BA1
0.59% ExAC East Asian; 0.56% gnomAD East Asian
PP2
PIK3CA meets the ExAC constraint z-score of >3.09
Not Met criteria codes
PVS1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BS2
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BS1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BS4
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BS3
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BP4
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BP3
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BP1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BP2
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BP5
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BP7
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PM1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PM3
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PM5
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PM4
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PS1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PS2
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PS3
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PM6
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PM2
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PP1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PP3
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PP4
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
Curation History
The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. If you have questions about the information contained on this website, please see a health care professional.
¤ Powered by BCM's Genboree.