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]
Link to SEPIO compliant JSON-LD document
  • No CSPEC related information was provided by the message!
  • See Evidence submitted by expert panel for details.

Variant: NM_001323289.2(CDKL5):c.1455_1460del (p.Ala486_Lys487del)

CA199357

156642 (ClinVar)

Gene: CDKL5
Condition: CDKL5 disorder
Inheritance Mode: X-linked inheritance
Link to MONDO
UUID: 4e03f2bf-5824-48c1-82e4-34c9d51faae1
Approved on: 2022-02-18
Published on: 2022-06-30

HGVS expressions

NM_001323289.2:c.1455_1460del
NM_001323289.2(CDKL5):c.1455_1460del (p.Ala486_Lys487del)
NC_000023.11:g.18604379_18604384del
CM000685.2:g.18604379_18604384del
NC_000023.10:g.18622499_18622504del
CM000685.1:g.18622499_18622504del
NC_000023.9:g.18532420_18532425del
NG_008475.1:g.183775_183780del
ENST00000623535.2:c.1455_1460del
ENST00000635828.1:c.1455_1460del
ENST00000674046.1:c.1455_1460del
ENST00000379989.6:c.1455_1460del
ENST00000379996.7:c.1455_1460del
ENST00000463994.4:c.1455_1460del
ENST00000623535.1:n.1455_1460del
NM_001037343.1:c.1455_1460del
NM_003159.2:c.1455_1460del
NM_001323289.1:c.1455_1460del
NM_001037343.2:c.1455_1460del
NM_003159.3:c.1455_1460del

Benign

Met criteria codes 2
BS2_Supporting BA1

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specifications for this VCEP
Evidence submitted by expert panel
Rett and Angelman-like Disorders VCEP
The allele frequency of the p.Ala486_Lys487del variant in CDKL5 is 0.03% in Latino/Admixed American sub population in gnomAD, which is high enough to be classified as benign based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions (BA1). The p.Ala486_Lys487del variant is observed in 1 unaffected individual (RettBASE, PMID 22867051) (BS2_supporting). In summary, the p.Ala486_Lys487del variant in CDKL5 is classified as benign based on the ACMG/AMP criteria applied (BA1, BS2_supporting).
Met criteria codes
BS2_Supporting
The p.Ala486_Lys487del variant is observed in 1 unaffected individual (RettBASE, PMID 22867051).
BA1
The allele frequency of the p.Ala486_Lys487del variant in CDKL5 is 0.03% in Latino/Admixed American sub population in gnomAD, which is high enough to be classified as benign based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions (BA1).
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.