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 the Allele Registry but not with ClinVar data
  • No CSPEC related information was provided by the message!
  • No CSPEC computed assertion could be determined for this classification!

  • See Evidence submitted by expert panel for details.

CA199501

189763 (ClinVar)

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

HGVS expressions

NM_001110792.2:c.6CGC[8]
NC_000023.11:g.154097657_154097662dup
CM000685.2:g.154097657_154097662dup
NC_000023.10:g.153363114_153363119dup
CM000685.1:g.153363114_153363119dup
NC_000023.9:g.153016308_153016313dup
NG_007107.2:g.44474_44479dup
NG_007107.3:g.44456_44461dup
ENST00000303391.11:c.-143_-138dup
ENST00000453960.7:c.18_23dup
ENST00000303391.10:c.-143_-138dup
ENST00000369957.5:c.-143_-138dup
ENST00000407218.5:c.18_23dup
ENST00000453960.6:c.18_23dup
ENST00000619732.4:c.-143_-138dup
ENST00000627864.1:n.33_38dup
ENST00000628176.2:c.-143_-138dup
ENST00000631210.1:n.305+7133_305+7138dup
NM_001110792.1:c.18_23dup
NM_001316337.1:c.-590_-585dup
NM_004992.3:c.-143_-138dup
NM_001110792.2:c.18_23dup
NM_001316337.2:c.-590_-585dup
NM_001369391.2:c.-885_-880dup
NM_001369392.2:c.-534_-529dup
NM_001369393.2:c.-410_-405dup
NM_001386137.1:c.-815_-810dup
NM_001386138.1:c.-703_-698dup
NM_001386139.1:c.-579_-574dup
NM_004992.4:c.-143_-138dup
More

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
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