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]

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Variant: NM_001110792.2(MECP2):c.653G>C (p.Gly218Ala)

CA170346

143638 (ClinVar)

Gene: MECP2

Condition: Rett syndrome

Inheritance Mode: X-linked inheritance

Link to MONDO

UUID: 25d4eef7-f6df-4c31-a1ab-11f029f4c8d2

Approved on: 2022-10-11

Published on: 2022-12-02

HGVS expressions

NM_001110792.2:c.653G>C

NM_001110792.2(MECP2):c.653G>C (p.Gly218Ala)

NC_000023.11:g.154031211C>G

CM000685.2:g.154031211C>G

NC_000023.10:g.153296662C>G

CM000685.1:g.153296662C>G

NC_000023.9:g.152949856C>G

NG_007107.2:g.110917G>C

NG_007107.3:g.110893G>C

ENST00000303391.11:c.617G>C

ENST00000453960.7:c.653G>C

ENST00000637917.1:n.65+185G>C

ENST00000303391.10:c.617G>C

ENST00000407218.5:c.544G>C

ENST00000453960.6:c.653G>C

ENST00000619732.4:c.617G>C

ENST00000622433.4:c.605G>C

ENST00000628176.2:c.508G>C

NM_001110792.1:c.653G>C

NM_001316337.1:c.338G>C

NM_004992.3:c.617G>C

NM_001316337.2:c.338G>C

NM_001369391.2:c.338G>C

NM_001369392.2:c.338G>C

NM_001369393.2:c.338G>C

NM_001369394.1:c.338G>C

NM_001369394.2:c.338G>C

NM_001386137.1:c.-53G>C

NM_001386138.1:c.-53G>C

NM_001386139.1:c.-53G>C

NM_004992.4:c.617G>C

Benign

BP5_Strong BS2 BS1

PM1 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 p.Gly206Ala variant in MECP2 (NM_004992.3) is 0.008% in the European (non-Finnish) 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 p.Gly206Ala variant in MECP2 is observed in at least 2 unaffected individuals (PMID 17427193, internal database - GeneDx) (BS2). The p.Gly206Ala variant is found in at least 3 patients with an alternate molecular basis of disease (internal database - GeneDx; internal database - Invitae) (BP5_strong). In summary, the p.Gly206Ala variant in MECP2 is classified as Benign based on the ACMG/AMP criteria (BS1, BS2, BP5_strong).

BP5_Strong

The p.Gly206Ala variant is found in at least 3 patients with an alternate molecular basis of disease (internal database - GeneDx; internal database - Invitae).

BS2

The p.Gly206Ala variant in MECP2 (NM_004992.3) is observed in at least 2 unaffected individuals (PMID 17427193, internal database - GeneDx) (BS2).

BS1

PM1

No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline

BP4

No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline

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