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.1231C>T (p.Pro411Ser)

CA206184

211454 (ClinVar)

Gene: MECP2
Condition: Rett syndrome
Inheritance Mode: X-linked inheritance
Link to MONDO
UUID: a428a427-c02e-4e6c-bc18-ef901cf5795f
Approved on: 2022-12-09
Published on: 2022-12-23

HGVS expressions

NM_001110792.2:c.1231C>T
NM_001110792.2(MECP2):c.1231C>T (p.Pro411Ser)
NC_000023.11:g.154030633G>A
CM000685.2:g.154030633G>A
NC_000023.10:g.153296084G>A
CM000685.1:g.153296084G>A
NC_000023.9:g.152949278G>A
NG_007107.2:g.111495C>T
NG_007107.3:g.111471C>T
ENST00000303391.11:c.1195C>T
ENST00000453960.7:c.1231C>T
ENST00000303391.10:c.1195C>T
ENST00000407218.5:c.*567C>T
ENST00000453960.6:c.1231C>T
ENST00000619732.4:c.1195C>T
ENST00000628176.2:c.*567C>T
NM_001110792.1:c.1231C>T
NM_001316337.1:c.916C>T
NM_004992.3:c.1195C>T
NM_001316337.2:c.916C>T
NM_001369391.2:c.916C>T
NM_001369392.2:c.916C>T
NM_001369393.2:c.916C>T
NM_001369394.1:c.916C>T
NM_001369394.2:c.916C>T
NM_001386137.1:c.526C>T
NM_001386138.1:c.526C>T
NM_001386139.1:c.526C>T
NM_004992.4:c.1195C>T

Likely Benign

Met criteria codes 2
BS1 BS2_Supporting
Not Met criteria codes 1
BP4

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.Pro399Ser variant in MECP2 (NM_004992.3) is 0.01% in Latino/Admixed American sub population in gnomAD, which is high enough to meet the BS1 criteria based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions (BS1). The p.Pro399Ser variant is observed in 1 unaffected individual (internal database) (BS2_supporting). In summary, the p.Pro399Ser variant in MECP2 is classified as a Likely Benign based on the ACMG/AMP criteria (BS1, BS2_supporting).
Met criteria codes
BS1
The allele frequency of the p.Pro399Ser variant in MECP2 (NM_004992.3) is 0.01% in Latino/Admixed American sub population in gnomAD, which is high enough to meet the BS1 criteria based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions (BS1).
BS2_Supporting
The p.Pro399Ser variant in MECP2 (NM_004992.3) is observed in 1 unaffected individual (internal database).
Not Met criteria codes
BP4
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
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