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.377+18C>G

CA199493

156051 (ClinVar)

Gene: MECP2

Condition: Rett syndrome

Inheritance Mode: X-linked inheritance

Link to MONDO

UUID: bde9379b-8d2f-4885-a4e6-e16d759872f1

HGVS expressions

NM_004992.3:c.377+18C>G

NM_004992.3(MECP2):c.377+18C>G

NC_000023.11:g.154032189G>C

CM000685.2:g.154032189G>C

NC_000023.10:g.153297640G>C

CM000685.1:g.153297640G>C

NC_000023.9:g.152950834G>C

NG_007107.2:g.109939C>G

NG_007107.3:g.109915C>G

ENST00000303391.11:c.377+18C>G

ENST00000453960.7:c.413+18C>G

ENST00000637917.1:n.10+18C>G

ENST00000303391.10:c.377+18C>G

ENST00000369957.5:c.*431+18C>G

ENST00000407218.5:c.413+18C>G

ENST00000453960.6:c.413+18C>G

ENST00000486506.5:n.2725+18C>G

ENST00000611468.1:c.365+18C>G

ENST00000619732.4:c.377+18C>G

ENST00000622433.4:c.365+18C>G

ENST00000628176.2:c.377+18C>G

NM_001110792.1:c.413+18C>G

NM_001316337.1:c.98+18C>G

NM_001110792.2:c.413+18C>G

NM_001316337.2:c.98+18C>G

NM_001369391.2:c.98+18C>G

NM_001369392.2:c.98+18C>G

NM_001369393.2:c.98+18C>G

NM_001369394.1:c.98+18C>G

NM_001369394.2:c.98+18C>G

NM_001386137.1:c.-184+18C>G

NM_001386138.1:c.-184+18C>G

NM_001386139.1:c.-184+18C>G

NM_004992.4:c.377+18C>G

NM_001110792.2(MECP2):c.413+18C>G

Likely Benign

BS1 BP4

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+18C>G variant (NM_004992.3) in MECP2 is 0.01% in Latino 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). Splice prediction analysis, using multiple computational tools does not suggest an impact to splicing (BP4). In summary, the c.377+18C>G variant in MECP2 is classified as likely benign based on the ACMG/AMP criteria (BS1, BP4).

BS1

The allele frequency of the c.377+18C>G variant in MECP2 is 0.01% in Latino 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.

BP4

Splice prediction analysis, using multiple computational tools does not suggest an impact to splicing

Approved on: 2021-12-22

Published on: 2021-12-27

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