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

CA199495

156059 (ClinVar)

Gene: MECP2

Condition: Rett syndrome

Inheritance Mode: X-linked inheritance

Link to MONDO

UUID: d1a21afb-c08d-4e51-a8d3-9b7e4c179254

HGVS expressions

NM_001110792.2:c.413+6_413+9del

NC_000023.11:g.154032205_154032208del

CM000685.2:g.154032205_154032208del

NC_000023.10:g.153297656_153297659del

CM000685.1:g.153297656_153297659del

NC_000023.9:g.152950850_152950853del

NG_007107.2:g.109927_109930del

NG_007107.3:g.109903_109906del

ENST00000303391.11:c.377+6_377+9del

ENST00000453960.7:c.413+6_413+9del

ENST00000637917.1:n.10+6_10+9del

ENST00000303391.10:c.377+6_377+9del

ENST00000369957.5:c.*431+6_*431+9del

ENST00000407218.5:c.413+6_413+9del

ENST00000453960.6:c.413+6_413+9del

ENST00000486506.5:n.2725+6_2725+9del

ENST00000611468.1:c.365+6_365+9del

ENST00000619732.4:c.377+6_377+9del

ENST00000622433.4:c.365+6_365+9del

ENST00000628176.2:c.377+6_377+9del

NM_001110792.1:c.413+6_413+9del

NM_001316337.1:c.98+6_98+9del

NM_004992.3:c.377+6_377+9del

NM_001316337.2:c.98+6_98+9del

NM_001369391.2:c.98+6_98+9del

NM_001369392.2:c.98+6_98+9del

NM_001369393.2:c.98+6_98+9del

NM_001369394.1:c.98+6_98+9del

NM_001369394.2:c.98+6_98+9del

NM_001386137.1:c.-184+6_-184+9del

NM_001386138.1:c.-184+6_-184+9del

NM_001386139.1:c.-184+6_-184+9del

NM_004992.4:c.377+6_377+9del

NM_001110792.2(MECP2):c.413+6_413+9del

Likely Benign

BS1 BP5

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 allele frequency of the c.377+6_377+9del variant in MECP2 (NM_004992.3) is 0.014% in the East Asian sub population in gnomAD, which is high enough to meet the BS1 criteria based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions (BS1). The c.377+6_377+9del variant is found in a patient with an alternate molecular basis of disease (internal database - GeneDx) (BP5). In summary, the c.377+6_377+9del variant in MECP2 is classified as Likely Benign based on the ACMG/AMP criteria (BS1, BP5).

BS1

The allele frequency of the c.377+6_377+9del variant in MECP2 is 0.014% in the East Asian sub population in gnomAD, which is high enough to be classified as likely benign based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions (BS1).

BP5

The c.377+6_377+9del variant is found in a patient with an alternate molecular basis of disease (internal database - GeneDx) (BP5).

Approved on: 2021-10-26

Published on: 2021-12-27

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