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.1497A>G (p.Ter499Trp)

Curation Version - 1.0
Curation History
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CA170257

143490 (ClinVar)

Gene: MECP2

Condition: Rett syndrome

Inheritance Mode: X-linked inheritance

Link to MONDO

UUID: 2bba9172-4eb1-4098-97c0-63efb3d2ff5b

Approved on: 2022-10-11

Published on: 2022-12-02

HGVS expressions

NM_001110792.2:c.1497A>G

NM_001110792.2(MECP2):c.1497A>G (p.Ter499Trp)

NC_000023.11:g.154030367T>C

CM000685.2:g.154030367T>C

NC_000023.10:g.153295818T>C

CM000685.1:g.153295818T>C

NC_000023.9:g.152949012T>C

NG_007107.2:g.111761A>G

NG_007107.3:g.111737A>G

ENST00000303391.11:c.1461A>G

ENST00000453960.7:c.1497A>G

ENST00000303391.10:c.1461A>G

ENST00000453960.6:c.1497A>G

ENST00000619732.4:c.1457A>G

ENST00000628176.2:c.*833A>G

NM_001110792.1:c.1497A>G

NM_001316337.1:c.1182A>G

NM_004992.3:c.1461A>G

NM_001316337.2:c.1182A>G

NM_001369391.2:c.1182A>G

NM_001369392.2:c.1182A>G

NM_001369393.2:c.1182A>G

NM_001369394.1:c.1182A>G

NM_001369394.2:c.1182A>G

NM_001386137.1:c.792A>G

NM_001386138.1:c.792A>G

NM_001386139.1:c.792A>G

NM_004992.4:c.1461A>G

Likely Pathogenic

PM2_Supporting PS4_Supporting PM4_Strong

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 p.*487Trpext*27 variant in MECP2 (NM_004992.3) occurs at the stop codon and causes a change in the length of the protein and an elongated mRNA transcript of MECP2 (PM4_strong). The p.*487Trpext*27 variant has been observed in at least 2 individuals with features of Rett syndrome (PMID 21807996, internal database - Invitae) (PS4_supporting). The p.*487Trpext*27 variant in MECP2 is absent from gnomAD (PM2_supporting). In summary, the p.*487Trpext*27 variant in MECP2 is classified as Likely Pathogenic for Rett syndrome based on the ACMG/AMP criteria (PM4_strong, PS4_supporting, PM2_supporting).

PM2_Supporting

The p.*487Trpext*27 variant in MECP2 is absent from gnomAD (PM2_supporting).

PS4_Supporting

The p.*487Trpext*27 variant has been observed in at least 2 individuals with features of Rett syndrome (PMID 21807996, internal database - Invitae) (PS4_supporting).

PM4_Strong

The p.*487Trpext*27 variant in MECP2 (NM_004992.3) occurs at the stop codon and causes a change in the length of the protein and an elongated mRNA transcript of MECP2 (PM4_strong).

Curation History

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