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.1198C>T (p.Pro400Ser)

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

CA274535

143393 (ClinVar)

Gene: MECP2

Condition: Rett syndrome

Inheritance Mode: X-linked inheritance

Link to MONDO

UUID: 788bd61d-e448-4487-aa28-328c5b73f0d1

Approved on: 2021-12-22

Published on: 2021-12-27

HGVS expressions

NM_001110792.2:c.1198C>T

NM_001110792.2(MECP2):c.1198C>T (p.Pro400Ser)

NC_000023.11:g.154030666G>A

CM000685.2:g.154030666G>A

NC_000023.10:g.153296117G>A

CM000685.1:g.153296117G>A

NC_000023.9:g.152949311G>A

NG_007107.2:g.111462C>T

NG_007107.3:g.111438C>T

ENST00000303391.11:c.1162C>T

ENST00000453960.7:c.1198C>T

ENST00000303391.10:c.1162C>T

ENST00000407218.5:c.*534C>T

ENST00000453960.6:c.1198C>T

ENST00000619732.4:c.1162C>T

ENST00000628176.2:c.*534C>T

NM_001110792.1:c.1198C>T

NM_001316337.1:c.883C>T

NM_004992.3:c.1162C>T

NM_001316337.2:c.883C>T

NM_001369391.2:c.883C>T

NM_001369392.2:c.883C>T

NM_001369393.2:c.883C>T

NM_001369394.1:c.883C>T

NM_001369394.2:c.883C>T

NM_001386137.1:c.493C>T

NM_001386138.1:c.493C>T

NM_001386139.1:c.493C>T

NM_004992.4:c.1162C>T

Benign

BA1

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.Pro388Ser (NM_004992.3) variant in MECP2 is 0.039% in a sub population in gnomAD, which is high enough to be classified as benign based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions (BA1). In summary, the p.Pro388Ser variant in MECP2 is classified as benign based on the ACMG/AMP criteria (BA1).

BA1

The allele frequency of the p.Pro400Ser variant in MECP2 is 0.039% in a sub population in gnomAD, which is high enough to be classified as benign based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions.

Curation History

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