The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]


Variant: NM_001323289.2(CDKL5):c.2465G>A (p.Arg822His)

CA10360541

377094 (ClinVar)

Gene: CDKL5
Condition: CDKL5 disorder
Inheritance Mode: X-linked inheritance
UUID: 32cab4fb-2e61-45c0-bb5a-c29787eeeb9a
Approved on: 2023-02-20
Published on: 2023-12-08

HGVS expressions

NM_001323289.2:c.2465G>A
NM_001323289.2(CDKL5):c.2465G>A (p.Arg822His)
NC_000023.11:g.18625216G>A
CM000685.2:g.18625216G>A
NC_000023.10:g.18643336G>A
CM000685.1:g.18643336G>A
NC_000023.9:g.18553257G>A
NG_008475.1:g.204612G>A
ENST00000623535.2:c.2465G>A
ENST00000635828.1:c.2465G>A
ENST00000674046.1:c.2588G>A
ENST00000379989.6:c.2465G>A
ENST00000379996.7:c.2465G>A
ENST00000623535.1:c.2465G>A
NM_001037343.1:c.2465G>A
NM_003159.2:c.2465G>A
NM_001323289.1:c.2465G>A
NM_001037343.2:c.2465G>A
NM_003159.3:c.2465G>A
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Likely Benign

Met criteria codes 2
BS2 BP4
Not Met criteria codes 1
BS1

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specification: ClinGen Rett and Angelman-like Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 2

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Criteria Specification Approval History
Criteria Specifications for this VCEP
Evidence submitted by expert panel
Rett and Angelman-like Disorders VCEP
The p.Arg822His variant in CDKL5 is present in 3 XX and 1 XY individuals in gnomAD v3.1.2 (0.0076%) (not sufficient to meet BS1 criteria). Computational analysis prediction tools suggest that the p.Arg822His variant does not have a deleterious impact; however this information does not predict clinical significance on its own (BP4). The p.Arg822His variant is observed in at least 2 unaffected individuals (internal database-GeneDX) (BS2). In summary, the p.Arg822His variant in CDKL5 is classified as Likely Benign based on the ACMG/AMP criteria (BS2, BP4).
Met criteria codes
BS2
The p.Arg822His variant is observed in at least 2 unaffected individuals (internal database-GeneDX).
BP4
Computational analysis prediction tools suggest that the p.Arg822His variant does not have a deleterious impact; however this information does not predict clinical significance on its own.
Not Met criteria codes
BS1
The p.Arg822His variant in CDKL5 is present in 3 XX and 1 XY individuals in gnomAD v3.1.2 (0.0076%) (not sufficient to meet BS1 criteria).
Curation History
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