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.2243A>G (p.Asn748Ser)

CA240506

194499 (ClinVar)

Gene: CDKL5

Condition: CDKL5 disorder

Inheritance Mode: X-linked inheritance (dominant (HP:0001423))

Link to MONDO

UUID: 7f8bf0db-1204-4240-937b-b8fb10254549

Approved on: 2023-02-20

Published on: 2023-03-31

HGVS expressions

NM_001323289.2:c.2243A>G

NM_001323289.2(CDKL5):c.2243A>G (p.Asn748Ser)

NC_000023.11:g.18613242A>G

CM000685.2:g.18613242A>G

NC_000023.10:g.18631362A>G

CM000685.1:g.18631362A>G

NC_000023.9:g.18541283A>G

NG_008475.1:g.192638A>G

ENST00000623535.2:c.2243A>G

ENST00000635828.1:c.2243A>G

ENST00000674046.1:c.2243A>G

ENST00000379989.6:c.2243A>G

ENST00000379996.7:c.2243A>G

ENST00000463994.4:c.2243A>G

ENST00000623535.1:n.2243A>G

NM_001037343.1:c.2243A>G

NM_003159.2:c.2243A>G

NM_001323289.1:c.2243A>G

NM_001037343.2:c.2243A>G

NM_003159.3:c.2243A>G

Benign

BS2_Supporting BA1

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 allele frequency of the p.Asn748Ser variant in CDKL5 is 0.03683% in African/African 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.Asn748Ser variant is observed in at least 1 unaffected individual (PMID: 29264392) (BS2_supporting). In summary, the p.Asn748Ser variant in CDKL5 is classified as Benign based on the ACMG/AMP criteria (BA1, BA2_supporting).

BS2_Supporting

The p.Asn748Ser variant is observed in at least 1 unaffected individual (PMID: 29264392)(BS2_supporting).

BA1

The allele frequency of the p.Asn748Ser variant in CDKL5 is 0.03683% in AFRICAN/AFRICAN 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.

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