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.474C>T (p.Gly158=)

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

CA232966

143574 (ClinVar)

Gene: MECP2

Condition: Rett syndrome

Inheritance Mode: X-linked inheritance

Link to MONDO

UUID: 2b2c3166-7dd2-4132-bd80-c73c165c5682

Approved on: 2021-11-24

Published on: 2021-12-27

HGVS expressions

NM_001110792.2:c.474C>T

NM_001110792.2(MECP2):c.474C>T (p.Gly158=)

NC_000023.11:g.154031390G>A

CM000685.2:g.154031390G>A

NC_000023.10:g.153296841G>A

CM000685.1:g.153296841G>A

NC_000023.9:g.152950035G>A

NG_007107.2:g.110738C>T

NG_007107.3:g.110714C>T

ENST00000303391.11:c.438C>T

ENST00000453960.7:c.474C>T

ENST00000637917.1:n.65+6C>T

ENST00000303391.10:c.438C>T

ENST00000369957.5:c.*492C>T

ENST00000407218.5:c.468+6C>T

ENST00000453960.6:c.474C>T

ENST00000486506.5:n.2786C>T

ENST00000611468.1:c.426C>T

ENST00000619732.4:c.438C>T

ENST00000622433.4:c.426C>T

ENST00000628176.2:c.432+6C>T

NM_001110792.1:c.474C>T

NM_001316337.1:c.159C>T

NM_004992.3:c.438C>T

NM_001316337.2:c.159C>T

NM_001369391.2:c.159C>T

NM_001369392.2:c.159C>T

NM_001369393.2:c.159C>T

NM_001369394.1:c.159C>T

NM_001369394.2:c.159C>T

NM_001386137.1:c.-129+6C>T

NM_001386138.1:c.-129+6C>T

NM_001386139.1:c.-129+6C>T

NM_004992.4:c.438C>T

Likely Benign

The Expert Panel has overridden the computationally generated classification - "Uncertain Significance - Conflicting Evidence"

BP5 BS2_Supporting PM2_Supporting

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.438C>T (p.Gly146=) variant in MECP2 (NM_004992.3) is absent from gnomAD (PM2_supporting). The p.Gly146= variant is observed in at least 1 unaffected individual (internal database - Invitae) (BS2_supporting). The p.Gly146= variant is found in a patient with an alternate molecular basis of disease (internal database - Invitae) (BP5). The Rett and Angelman-like Disorders Variant Curation Expert Panel classified this variant as Likely Benign based on BS2_supporting and BP5.

BP5

The p.Gly146= variant is found in a patient with an alternate molecular basis of disease (internal database - Invitae) (BP5).

BS2_Supporting

The p.Gly146= variant is observed in at least 1 unaffected individuals (internal database - Invitae) (BS2_supporting).

PM2_Supporting

The p.Gly146= variant in MECP2 is absent from gnomAD (PM2_supporting).

PP3

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

Curation History

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