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.852G>A (p.Pro284=)

CA172580

158884 (ClinVar)

Gene: MECP2
Condition: Rett syndrome
Inheritance Mode: X-linked inheritance
Link to MONDO
UUID: 9287dab1-56ee-4be1-b57c-aa10f052e0e6
Approved on: 2024-02-23
Published on: 2024-06-27

HGVS expressions

NM_001110792.2:c.852G>A
NM_001110792.2(MECP2):c.852G>A (p.Pro284=)
NC_000023.11:g.154031012C>T
CM000685.2:g.154031012C>T
NC_000023.10:g.153296463C>T
CM000685.1:g.153296463C>T
NC_000023.9:g.152949657C>T
NG_007107.2:g.111116G>A
NG_007107.3:g.111092G>A
ENST00000303391.11:c.816G>A
ENST00000453960.7:c.852G>A
ENST00000637917.1:c.66-76G>A
ENST00000303391.10:c.816G>A
ENST00000407218.5:c.*188G>A
ENST00000453960.6:c.852G>A
ENST00000619732.4:c.816G>A
ENST00000622433.4:c.804G>A
ENST00000628176.2:c.*188G>A
NM_001110792.1:c.852G>A
NM_001316337.1:c.537G>A
NM_004992.3:c.816G>A
NM_001316337.2:c.537G>A
NM_001369391.2:c.537G>A
NM_001369392.2:c.537G>A
NM_001369393.2:c.537G>A
NM_001369394.1:c.537G>A
NM_001369394.2:c.537G>A
NM_001386137.1:c.147G>A
NM_001386138.1:c.147G>A
NM_001386139.1:c.147G>A
NM_004992.4:c.816G>A
More

Likely Benign

Met criteria codes 3
BP4 BP7 BS2_Supporting
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.Pro272= variant in MECP2 (NM_004992.3) is present in 3 XX and 2 XY individual(s) in gnomAD v2 (0.002%) (not sufficient to meet BS1 criteria). The silent p.Pro272= variant is not predicted to affect splicing using multiple computational tools and does not affect a highly conserved nucleotide (BP4, BP7). The p.Pro272= variant is observed in at least 1 unaffected individual (internal database - Invitae) (BS2_supporting). In summary, the p.Pro272= variant in MECP2 is classified as likely benign based on the ACMG/AMP criteria (BP4, BP7, BS2_supporting).
Met criteria codes
BP4
The silent p.Pro272= variant is not predicted to affect splicing using multiple computational tools and does not affect a highly conserved nucleotide (BP4, BP7).
BP7
The silent p.Pro272= variant is not predicted to affect splicing using multiple computational tools and does not affect a highly conserved nucleotide (BP4, BP7).
BS2_Supporting
The p.Pro272= variant is observed in at least 1 unaffected individual (internal database - Invitae) (BS2_supporting).
Not Met criteria codes
BS1
The p.Pro272= variant in MECP2 (NM_004992.3) is present in 3 XX and 2 XY individual(s) in gnomAD v2 (0.002 %) (not sufficient to meet BS1 criteria).
Curation History
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