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.261G>A (p.Pro87=)

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

CA170275

143505 (ClinVar)

Gene: MECP2

Condition: Rett syndrome

Inheritance Mode: X-linked inheritance

Link to MONDO

UUID: 04aea3f0-d5fd-49bd-b8c9-17ac87905b91

Approved on: 2021-10-26

Published on: 2021-12-27

HGVS expressions

NM_001110792.2:c.261G>A

NM_001110792.2(MECP2):c.261G>A (p.Pro87=)

NC_000023.11:g.154032359C>T

CM000685.2:g.154032359C>T

NC_000023.10:g.153297810C>T

CM000685.1:g.153297810C>T

NC_000023.9:g.152951004C>T

NG_007107.2:g.109769G>A

NG_007107.3:g.109745G>A

ENST00000303391.11:c.225G>A

ENST00000453960.7:c.261G>A

ENST00000303391.10:c.225G>A

ENST00000369957.5:c.*279G>A

ENST00000407218.5:c.261G>A

ENST00000453960.6:c.261G>A

ENST00000486506.5:n.2573G>A

ENST00000611468.1:c.213G>A

ENST00000619732.4:c.225G>A

ENST00000622433.4:c.213G>A

ENST00000628176.2:c.225G>A

NM_001110792.1:c.261G>A

NM_001316337.1:c.-55G>A

NM_004992.3:c.225G>A

NM_001316337.2:c.-55G>A

NM_001369391.2:c.-55G>A

NM_001369392.2:c.-55G>A

NM_001369393.2:c.-55G>A

NM_001369394.1:c.-55G>A

NM_001369394.2:c.-55G>A

NM_001386137.1:c.-336G>A

NM_001386138.1:c.-336G>A

NM_001386139.1:c.-336G>A

NM_004992.4:c.225G>A

Likely Benign

BS2 BP5

PP4 PP3

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 c.225G>A (p.Pro75=) variant in MECP2 (NM_004992.3) is observed in at least 2 unaffected individuals (internal database - GeneDx) (BS2). The c.225G>A (p.Pro75=) variant is found in a patient with an alternate molecular basis of disease (internal database - Invitae) (BP5). In summary, the c.225G>A (p.Pro75=) variant in MECP2 is classified as Likely Benign based on the ACMG/AMP criteria (BS2, BP5).

BS2

The c.225G>A (p.Pro75=) variant is observed in at least 2 unaffected individuals (internal database - GeneDx) (BS2).

BP5

The c.225G>A (p.Pro75=) variant is found in a patient with an alternate molecular basis of disease (internal database - Invitae) (BP5).

PP4

The c.225G>A (p.Pro75=) variant in MECP2 has been identified in a male with non-specific intellectual disability (PMID 12111644).

PP3

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

Curation History

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. If you have questions about the information contained on this website, please see a health care professional.