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]

Variant: NM_001110792.2(MECP2):c.737C>G (p.Ala246Gly)

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Curation History
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CA294719

156670 (ClinVar)

Gene: MECP2

Condition: Rett syndrome

Inheritance Mode: X-linked inheritance

Link to MONDO

UUID: 21681f8f-ca00-41a5-a493-384733758727

Approved on: 2022-12-08

Published on: 2022-12-23

HGVS expressions

NM_001110792.2:c.737C>G

NM_001110792.2(MECP2):c.737C>G (p.Ala246Gly)

NC_000023.11:g.154031127G>C

CM000685.2:g.154031127G>C

NC_000023.10:g.153296578G>C

CM000685.1:g.153296578G>C

NC_000023.9:g.152949772G>C

NG_007107.2:g.111001C>G

NG_007107.3:g.110977C>G

ENST00000303391.11:c.701C>G

ENST00000453960.7:c.737C>G

ENST00000637917.1:n.66-191C>G

ENST00000303391.10:c.701C>G

ENST00000407218.5:c.*73C>G

ENST00000453960.6:c.737C>G

ENST00000619732.4:c.701C>G

ENST00000622433.4:c.689C>G

ENST00000628176.2:c.*73C>G

NM_001110792.1:c.737C>G

NM_001316337.1:c.422C>G

NM_004992.3:c.701C>G

NM_001316337.2:c.422C>G

NM_001369391.2:c.422C>G

NM_001369392.2:c.422C>G

NM_001369393.2:c.422C>G

NM_001369394.1:c.422C>G

NM_001369394.2:c.422C>G

NM_001386137.1:c.32C>G

NM_001386138.1:c.32C>G

NM_001386139.1:c.32C>G

NM_004992.4:c.701C>G

Benign

BA1 BS2

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 p.Ala234Gly variant in MECP2 (NM_004992.3) is 0.26% in Ashkenazi Jewish 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 p.Ala234Gly variant is observed in at least 2 unaffected individuals (internal database) (BS2). In summary, the p.Ala234Gly variant in MECP2 is classified as Benign based on the ACMG/AMP criteria (BA1, BS2).

BA1

BS2

The p.Ala234Gly variant in MECP2 (NM_004992.3) is observed in at least 2 unaffected individuals (internal database).

Curation History

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