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.553C>A (p.Pro185Thr)

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

CA415173958

804125 (ClinVar)

Gene: MECP2

Condition: Rett syndrome

Inheritance Mode: X-linked inheritance

Link to MONDO

UUID: 620fe876-df5e-4691-833d-2490e0485e3e

Approved on: 2024-08-30

Published on: 2024-12-23

HGVS expressions

NM_001110792.2:c.553C>A

NM_001110792.2(MECP2):c.553C>A (p.Pro185Thr)

NC_000023.11:g.154031311G>T

CM000685.2:g.154031311G>T

NC_000023.10:g.153296762G>T

CM000685.1:g.153296762G>T

NC_000023.9:g.152949956G>T

NG_007107.2:g.110817C>A

NG_007107.3:g.110793C>A

ENST00000303391.11:c.517C>A

ENST00000453960.7:c.553C>A

ENST00000637917.1:c.65+85C>A

ENST00000303391.10:c.517C>A

ENST00000407218.5:c.469-25C>A

ENST00000453960.6:c.553C>A

ENST00000486506.5:n.2865C>A

ENST00000611468.1:c.503C>A

ENST00000619732.4:c.517C>A

ENST00000622433.4:c.505C>A

ENST00000628176.2:c.433-25C>A

NM_001110792.1:c.553C>A

NM_001316337.1:c.238C>A

NM_004992.3:c.517C>A

NM_001316337.2:c.238C>A

NM_001369391.2:c.238C>A

NM_001369392.2:c.238C>A

NM_001369393.2:c.238C>A

NM_001369394.1:c.238C>A

NM_001369394.2:c.238C>A

NM_001386137.1:c.-128-25C>A

NM_001386138.1:c.-128-25C>A

NM_001386139.1:c.-128-25C>A

NM_004992.4:c.517C>A

Uncertain Significance

BS2_Supporting

PM1 PM5 PM2 BS1 PS1 BA1

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 highest population minor allele frequency of the p.Pro173Thr variant in MECP2 (NM_004992.4) in gnomAD v4.1 is 0.000002233 in European (non-Finnish) population (not sufficient to meet BS1 criteria). The p.Pro173Thr variant is observed in at least 1 unaffected individual (internal database - GeneDx) (BS2_Supporting). The p.Pro173Thr 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 summary, the p.Pro173Thr variant in MECP2 is classified as a variant of uncertain significance based on the ACMG/AMP criteria (BS2_Supporting). (MECP2 specification v3.0.0, curation approved on 8/30/2024)

BS2_Supporting

The p.Pro173Thr variant is observed in at least 1 unaffected individual (internal database - GeneDx) (BS2_Supporting).

PM1

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

PM5

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

PM2

BS1

PS1

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

BA1

Curation History

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