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]
  • Gene obtained from curated document aligns with the Allele Registry but not with ClinVar data
  • No CSPEC computer assertion could be determined for this classification!

Variant: NM_001110792.2(MECP2):c.1117C>T (p.Pro373Ser)

CA415168076

655951 (ClinVar)

Gene: MECP2
Condition: Rett syndrome
Inheritance Mode: X-linked inheritance
Link to MONDO
UUID: 261699fe-f74e-4b38-8e46-427494a03716
Approved on: 2024-04-18
Published on: 2024-07-01

HGVS expressions

NM_001110792.2:c.1117C>T
NM_001110792.2(MECP2):c.1117C>T (p.Pro373Ser)
NC_000023.11:g.154030747G>A
CM000685.2:g.154030747G>A
NC_000023.10:g.153296198G>A
CM000685.1:g.153296198G>A
NC_000023.9:g.152949392G>A
NG_007107.2:g.111381C>T
NG_007107.3:g.111357C>T
ENST00000303391.11:c.1081C>T
ENST00000453960.7:c.1117C>T
ENST00000303391.10:c.1081C>T
ENST00000407218.5:c.*453C>T
ENST00000453960.6:c.1117C>T
ENST00000619732.4:c.1081C>T
ENST00000628176.2:c.*453C>T
NM_001110792.1:c.1117C>T
NM_001316337.1:c.802C>T
NM_004992.3:c.1081C>T
NM_001316337.2:c.802C>T
NM_001369391.2:c.802C>T
NM_001369392.2:c.802C>T
NM_001369393.2:c.802C>T
NM_001369394.1:c.802C>T
NM_001369394.2:c.802C>T
NM_001386137.1:c.412C>T
NM_001386138.1:c.412C>T
NM_001386139.1:c.412C>T
NM_004992.4:c.1081C>T
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Likely Benign

Met criteria codes 2
BS2 BP5
Not Met criteria codes 1
BS1

Evidence Links 0

Expert Panel

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 p.Pro361Ser variant in MECP2 (NM_004992.3) is present in 9 XX and 3 XY individual(s) in gnomAD v4.0 (0.001%) (not sufficient to meet BS1 criteria). The p.Pro361Ser variant in the MECP2 gene is observed in at least 2 unaffected individuals (GeneDx internal database) (BS2). The p.Pro361Ser variant is found in a patient with an alternate molecular basis of disease (GeneDx internal database) (BP5). In summary, the p.Pro361Ser variant in MECP2 is classified as likely benign based on the ACMG/AMP criteria (BS2, BP5).
Met criteria codes
BS2
The p.Pro361Ser variant is observed in at least 2 unaffected individuals (GeneDx internal database).
BP5
The p.Pro361Ser variant is found in a patient with an alternate molecular basis of disease (GeneDx internal database).
Not Met criteria codes
BS1
The p.Pro361Ser variant in MECP2 is present in 9 XX and 3 XY individual(s) in gnomAD v4.0 (0.001%) (not sufficient to meet BS1 criteria).
Curation History
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