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.1497A>G (p.Ter499Trp)

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 PM4_Strong PS4_Supporting

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).

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).

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).

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. If you have questions about the information contained on this website, please see a health care professional.