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_004992.3(MECP2):c.378-6C>G

CA10558620

236301 (ClinVar)

Gene: MECP2

Condition: Rett syndrome

Inheritance Mode: X-linked inheritance

Link to MONDO

UUID: 33ec58c4-5da7-46bb-a761-b2be245c972b

HGVS expressions

NM_004992.3:c.378-6C>G

NM_004992.3(MECP2):c.378-6C>G

NC_000023.11:g.154031456G>C

CM000685.2:g.154031456G>C

NC_000023.10:g.153296907G>C

CM000685.1:g.153296907G>C

NC_000023.9:g.152950101G>C

NG_007107.2:g.110672C>G

NG_007107.3:g.110648C>G

ENST00000303391.11:c.378-6C>G

ENST00000453960.7:c.414-6C>G

ENST00000637917.1:n.11-6C>G

ENST00000303391.10:c.378-6C>G

ENST00000369957.5:c.*432-6C>G

ENST00000407218.5:c.414-6C>G

ENST00000453960.6:c.414-6C>G

ENST00000486506.5:n.2726-6C>G

ENST00000611468.1:c.366-6C>G

ENST00000619732.4:c.378-6C>G

ENST00000622433.4:c.366-6C>G

ENST00000628176.2:c.378-6C>G

NM_001110792.1:c.414-6C>G

NM_001316337.1:c.99-6C>G

NM_001110792.2:c.414-6C>G

NM_001316337.2:c.99-6C>G

NM_001369391.2:c.99-6C>G

NM_001369392.2:c.99-6C>G

NM_001369393.2:c.99-6C>G

NM_001369394.1:c.99-6C>G

NM_001369394.2:c.99-6C>G

NM_001386137.1:c.-183-6C>G

NM_001386138.1:c.-183-6C>G

NM_001386139.1:c.-183-6C>G

NM_004992.4:c.378-6C>G

Benign

BA1 BP5

BP7

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.378-6C>G variant in MECP2 is 0.032% in Latino 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.378-6C>G variant is found in a patient with an alternate molecular basis of disease (internal database) (BP5). In summary, the c.378-6C>G variant in MECP2 is classified as benign based on the ACMG/AMP criteria (BA1, BP5).

BA1

BP5

The c.378-6C>G variant is found in a patient with an alternate molecular basis of disease (internal database)

BP7

Predicted change at acceptor site 6 bps downstream: -14.1% MaxEnt: -26.4% NNSPLICE: -12.0% HSF: -3.9%

Approved on: 2021-03-26

Published on: 2021-05-17

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