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]
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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
More

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).
Curation History
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