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]

Variant: NM_001110792.2(MECP2):c.1440G>A (p.Arg480=)

CA199303

138196 (ClinVar)

Gene: MECP2 (HGNC:4204)

Condition: Rett syndrome (MONDO:0010726)

Inheritance Mode: X-linked inheritance

UUID: 090f55c0-5f35-4dde-8462-b853758a24c0

Approved on: 2022-05-10

Published on: 2022-06-28

HGVS expressions

NM_001110792.2:c.1440G>A

NM_001110792.2(MECP2):c.1440G>A (p.Arg480=)

NC_000023.11:g.154030424C>T

CM000685.2:g.154030424C>T

NC_000023.10:g.153295875C>T

CM000685.1:g.153295875C>T

NC_000023.9:g.152949069C>T

NG_007107.2:g.111704G>A

NG_007107.3:g.111680G>A

ENST00000303391.11:c.1404G>A

ENST00000453960.7:c.1440G>A

ENST00000303391.10:c.1404G>A

ENST00000453960.6:c.1440G>A

ENST00000619732.4:c.1404G>A

ENST00000628176.2:c.*776G>A

NM_001110792.1:c.1440G>A

NM_001316337.1:c.1125G>A

NM_004992.3:c.1404G>A

NM_001316337.2:c.1125G>A

NM_001369391.2:c.1125G>A

NM_001369392.2:c.1125G>A

NM_001369393.2:c.1125G>A

NM_001369394.1:c.1125G>A

NM_001369394.2:c.1125G>A

NM_001386137.1:c.735G>A

NM_001386138.1:c.735G>A

NM_001386139.1:c.735G>A

NM_004992.4:c.1404G>A

Likely Benign

BP5 BP7 BP4

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 silent p.Arg468= variant in MECP2 (NM_004992) is not predicted to affect splicing using multiple computational tools and does not affect a highly conserved nucleotide (BP7). The p.Arg468= variant is found in two patients with an alternate molecular basis of disease (INVITAE internal cases) (BP5). Splice prediction analysis, using multiple computational tools does not suggest an impact to splicing (BP4). In summary the p.Arg468= variant in MECP2 is classified as Likely Benign for Rett syndrome disorder based on the ACMG/AMP criteria (BP7, BP4, BP5).

BP5

The p.(Arg468=) variant is found in two patients with an alternate molecular basis of disease (Invitae internal cases) (BP5)

BP7

The silent p.(Arg468=) variant is not predicted to affect splicing using multiple computational tools and does not affect a highly conserved nucleotide BP7

BP4

Splice prediction analysis, using multiple computational tools does not suggest an impact to splicing BP4

Curation History

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