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]

Link to SEPIO compliant JSON-LD document

Variant: NM_001110792.2(MECP2):c.488A>G (p.Asp163Gly)

CA270421

143578 (ClinVar)

Gene: MECP2

Condition: Rett syndrome

Inheritance Mode: X-linked inheritance

Link to MONDO

UUID: b6d47811-23c9-458c-b9ae-f33311d4bb97

HGVS expressions

NM_001110792.2:c.488A>G

NM_001110792.2(MECP2):c.488A>G (p.Asp163Gly)

NC_000023.11:g.154031376T>C

CM000685.2:g.154031376T>C

NC_000023.10:g.153296827T>C

CM000685.1:g.153296827T>C

NC_000023.9:g.152950021T>C

NG_007107.2:g.110752A>G

NG_007107.3:g.110728A>G

ENST00000303391.11:c.452A>G

ENST00000453960.7:c.488A>G

ENST00000637917.1:c.65+20A>G

ENST00000303391.10:c.452A>G

ENST00000369957.5:c.*506A>G

ENST00000407218.5:c.468+20A>G

ENST00000453960.6:c.488A>G

ENST00000486506.5:n.2800A>G

ENST00000611468.1:c.440A>G

ENST00000619732.4:c.452A>G

ENST00000622433.4:c.440A>G

ENST00000628176.2:c.432+20A>G

NM_001110792.1:c.488A>G

NM_001316337.1:c.173A>G

NM_004992.3:c.452A>G

NM_001316337.2:c.173A>G

NM_001369391.2:c.173A>G

NM_001369392.2:c.173A>G

NM_001369393.2:c.173A>G

NM_001369394.1:c.173A>G

NM_001369394.2:c.173A>G

NM_001386137.1:c.-129+20A>G

NM_001386138.1:c.-129+20A>G

NM_001386139.1:c.-129+20A>G

NM_004992.4:c.452A>G

Likely Pathogenic

PS4_Moderate PP4 PP3 PM1 PM2_Supporting

Evidence Links 1

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 p.Asp151Gly variant in MECP2 (NM_004992.3) has been reported in an individual with a clinical phenotype suggestive of Rett syndrome (PMID 15173251) (PP4). The p.Asp151Gly variant has been observed in at least 3 other individuals with atypical Rett syndrome or clinical features of Rett syndrome (PMID 15173251, 32472557, internal database - University of Chicago, internal database - Invitae) (PS4_Moderate). The p.Asp151Gly variant occurs in the well-characterized Methyl-DNA binding (MDB) functional domain of MECP2 (PM1). The p.Asp151Gly variant in MECP2 is absent from gnomAD (PM2_Supporting). Computational prediction analysis tools suggests a deleterious impact; however, this information does not predict clinical significance on its own (PP3). In summary, the p.Asp151Gly variant in MECP2 is classified as Likely Pathogenic based on the ACMG/AMP criteria (PS4_moderate, PM1, PM2_supporting, PP3, PP4).

PS4_Moderate

The p.Asp151Gly variant has been observed in at least 3 other individuals with either atypical Rett syndrome or clinical features of Rett syndrome (PMID 15173251, 32472557, internal database - University of Chicago, internal database - Invitae) (PS4_moderate).

PS4_supporting PubMed:12180070

PP4

The p.Asp151Gly variant in MECP2 (NM_004992.3) has been reported in an individual with a clinical phenotype suggestive of Rett syndrome (PMID 15173251) (PP4).

PP3

Computational prediction analysis tools suggests a deleterious impact; however, this information does not predict clinical significance on its own

PM1

The p.Asp151Gly variant occurs in the well-characterized Methyl-DNA binding (MDB) functional domain of MECP2

PM2_Supporting

The p.Asp151Gly variant in MECP2 is absent from gnomAD

Approved on: 2023-10-13

Published on: 2023-12-08

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