Evidence Repository
The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]
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Variant: NM_001110792.2(MECP2):c.876C>T (p.Ala292=)

CA199315

138190 (ClinVar)

Gene: MECP2
Condition: Rett syndrome
Inheritance Mode: X-linked inheritance
Link to MONDO
UUID: 0a26b7fc-3f4b-4b78-8d45-c795df8e7093
Approved on: 2022-05-10
Published on: 2022-06-28

HGVS expressions

NM_001110792.2:c.876C>T
NM_001110792.2(MECP2):c.876C>T (p.Ala292=)
NC_000023.11:g.154030988G>A
CM000685.2:g.154030988G>A
NC_000023.10:g.153296439G>A
CM000685.1:g.153296439G>A
NC_000023.9:g.152949633G>A
NG_007107.2:g.111140C>T
NG_007107.3:g.111116C>T
ENST00000303391.11:c.840C>T
ENST00000453960.7:c.876C>T
ENST00000637917.1:n.66-52C>T
ENST00000303391.10:c.840C>T
ENST00000407218.5:c.*212C>T
ENST00000453960.6:c.876C>T
ENST00000619732.4:c.840C>T
ENST00000622433.4:c.828C>T
ENST00000628176.2:c.*212C>T
NM_001110792.1:c.876C>T
NM_001316337.1:c.561C>T
NM_004992.3:c.840C>T
NM_001316337.2:c.561C>T
NM_001369391.2:c.561C>T
NM_001369392.2:c.561C>T
NM_001369393.2:c.561C>T
NM_001369394.1:c.561C>T
NM_001369394.2:c.561C>T
NM_001386137.1:c.171C>T
NM_001386138.1:c.171C>T
NM_001386139.1:c.171C>T
NM_004992.4:c.840C>T
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Benign

Met criteria codes 2
BA1 BS2

Evidence Links 0

Expert Panel

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.Ala280= variant in MECP2 (NM_004992) is 0.034% in European (Non-Finnish) 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). The p.Ala280= variant is observed in at least 2 unaffected individuals (PMID 11469283, PMID 20479760) (BS2). In summary the p.Ala280= variant in MECP2 is classified as Benign for Rett syndrome disorder based on the ACMG/AMP criteria (BA1, BS2).
Met criteria codes
BA1
The allele frequency of the p.(Ala280=) variant in MECP2 is 0.034% in European (Non-Finnish) 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
BS2
The p.(Ala280=) variant is observed in at least 2 unaffected individuals (PMID 11469283, PMID 20479760) BS2
Curation History
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