Evidence Repository - Clinical Genome Resources

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.65-4A>G

CA10360187

434661 (ClinVar)

Gene: CDKL5

Condition: CDKL5 disorder

Inheritance Mode: X-linked inheritance

Link to MONDO

UUID: 485aaa97-b63b-484e-918a-fc3528fc11d3

Approved on: 2023-10-13

Published on: 2023-12-11

HGVS expressions

NM_001323289.2:c.65-4A>G

NM_001323289.2(CDKL5):c.65-4A>G

NC_000023.11:g.18510816A>G

CM000685.2:g.18510816A>G

NC_000023.10:g.18528936A>G

CM000685.1:g.18528936A>G

NC_000023.9:g.18438857A>G

NG_008475.1:g.90212A>G

ENST00000623535.2:c.65-4A>G

ENST00000635828.1:c.65-4A>G

ENST00000637881.1:c.65-4A>G

ENST00000674046.1:c.65-4A>G

ENST00000379989.6:c.65-4A>G

ENST00000379996.7:c.65-4A>G

ENST00000463994.4:c.65-4A>G

ENST00000623364.3:c.65-4A>G

ENST00000623535.1:c.65-4A>G

ENST00000624700.3:c.65-4A>G

NM_001037343.1:c.65-4A>G

NM_003159.2:c.65-4A>G

NM_001323289.1:c.65-4A>G

NM_001037343.2:c.65-4A>G

NM_003159.3:c.65-4A>G

Uncertain Significance

BP4

PM2

Evidence Links 0

Expert Panel

Rett and Angelman-like Disorders VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Rett and Angelman-like Disorders VCEP

The c.65-4A>G variant in CDKL5 is present in 1 XX individual in gnomAD (does not meet BS1 based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions). Splice prediction analysis, using multiple computational tools does not suggest an impact to splicing (BP4). In summary, the c.65-4A>G in CDKL5 is classified as a variant of uncertain significance based on the ACMG/AMP criteria (BP4).

BP4

Splice prediction analysis, using multiple computational tools does not suggest an impact to splicing.

PM2

The c.65-4A>G variant in CDKL5 is not absent from gnomAD (present in one heterozygote).

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