Evidence Repository - GenboreeKB

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.1207C>G (p.Pro403Ala)

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

CA10558486

426939 (ClinVar)

Gene: MECP2

Condition: Rett syndrome

Inheritance Mode: X-linked inheritance

Link to MONDO

UUID: 3c702aa7-fe97-4b1d-8e66-7943d58146be

Approved on: 2024-08-30

Published on: 2024-12-23

HGVS expressions

NM_001110792.2:c.1207C>G

NM_001110792.2(MECP2):c.1207C>G (p.Pro403Ala)

NC_000023.11:g.154030657G>C

CM000685.2:g.154030657G>C

NC_000023.10:g.153296108G>C

CM000685.1:g.153296108G>C

NC_000023.9:g.152949302G>C

NG_007107.2:g.111471C>G

NG_007107.3:g.111447C>G

ENST00000303391.11:c.1171C>G

ENST00000453960.7:c.1207C>G

ENST00000303391.10:c.1171C>G

ENST00000407218.5:c.*543C>G

ENST00000453960.6:c.1207C>G

ENST00000619732.4:c.1171C>G

ENST00000628176.2:c.*543C>G

NM_001110792.1:c.1207C>G

NM_001316337.1:c.892C>G

NM_004992.3:c.1171C>G

NM_001316337.2:c.892C>G

NM_001369391.2:c.892C>G

NM_001369392.2:c.892C>G

NM_001369393.2:c.892C>G

NM_001369394.1:c.892C>G

NM_001369394.2:c.892C>G

NM_001386137.1:c.502C>G

NM_001386138.1:c.502C>G

NM_001386139.1:c.502C>G

NM_004992.4:c.1171C>G

Likely Benign

BS2

PP3 BP4

Evidence Links 0

Expert Panel

Rett and Angelman-like Disorders VCEP

Criteria Specification Information

Criteria Specification: ClinGen Rett and Angelman-like Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for MECP2 Version 3.0.0

Criteria Specification Approval History

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Rett and Angelman-like Disorders VCEP

The p.Pro391Ala variant in MECP2 (NM_004992.4) is observed in at least 2 unaffected individuals (internal database - Invitae and GeneDx) (BS2). The p.Pro391Ala variant is not currently published and is not present in additional databases (internal and publicly available), therefore, no additional criteria are applicable at this time. In the absence of conflicting evidence, this is sufficient evidence to classify as likely benign based on the specifications defined by the ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel. In summary, the p.Pro391Ala variant in MECP2 (NM_004992.4) is classified as likely benign for Rett syndrome based on the ACMG/AMP criteria (BS2). (MECP2 specification v.3.0.0, curation approved on 8/30/2024)

BS2

The p.Pro391Ala variant in MECP2 (NM_004992.4) is observed in at least 2 unaffected individuals (internal database - Invitae and GeneDx) (BS2).

PP3

Computational prediction analysis tools are inconclusive for this variant (no criteria met).

BP4

Computational prediction analysis tools are inconclusive for this variant (no criteria met).

Curation History

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