Evidence Repository
The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]
  • Gene obtained from curated document aligns with ClinVar but not with the Allele Registry data
  • No CSPEC related information was provided by the message!
  • See Evidence submitted by expert panel for details.

189763 (ClinVar)

Gene: MECP2
Condition: Rett syndrome
Inheritance Mode: X-linked inheritance
Link to MONDO
UUID: c48f555f-9ddc-4964-bf94-b6f391f2220d
Approved on: 2022-12-08
Published on: 2022-12-23

HGVS expressions

NM_001110792.2:c.6CGC[8]
NM_001110792.2(MECP2):c.6CGC[8] (p.Ala7_Ala8dup)

Benign

Met criteria codes 2
BS2 BA1
Not Met criteria codes 1
PS4

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specifications for this VCEP
Evidence submitted by expert panel
Rett and Angelman-like Disorders VCEP
The allele frequency of the c.-143_-138dup variant in MECP2 (NM_004992.3) is 0.033% in African/African American sub population in gnomAD, which is high enough to be classified as benign based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions (BA1). The c.-143_-138dup variant is observed in at least 2 unaffected individuals (PMID: 15367913, internal database) (BS2). The c.-143_-138dup variant has been observed in at least 2 individuals with neurological disorders (PMID: 33880059, 16829352) (PS4 not met). In summary, the c.-143_-138dup variant in MECP2 is classified as Benign based on the ACMG/AMP criteria (BA1, BS2).
Met criteria codes
BS2
The c.-143_-138dup variant in MECP2 (NM_004992.3) is observed in at least 2 unaffected individuals (PMID: 15367913, gnomAD, internal database) (BS2).
BA1
The allele frequency of the c.-143_-138dup variant in MECP2 (NM_004992.3) is 0.033% in African/African American sub population in gnomAD, which is high enough to be classified as benign based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions (BA1).
Not Met criteria codes
PS4
The c.-143_-138dup variant in MECP2 (NM_004992.3) has been observed in at least 2 individuals with neurological disorders (PMID: 33880059, 16829352).
Curation History
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.
¤ Powered by BCM's Genboree.