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.1241C>T (p.Pro414Leu)

CA199300

138195 (ClinVar)

Gene: MECP2
Condition: Rett syndrome
Inheritance Mode: X-linked inheritance
Link to MONDO
UUID: 64da92b7-700b-4545-b33f-9ca6adb678d5

HGVS expressions

NM_001110792.2:c.1241C>T
NM_001110792.2(MECP2):c.1241C>T (p.Pro414Leu)
NC_000023.11:g.154030623G>A
CM000685.2:g.154030623G>A
NC_000023.10:g.153296074G>A
CM000685.1:g.153296074G>A
NC_000023.9:g.152949268G>A
NG_007107.2:g.111505C>T
NG_007107.3:g.111481C>T
ENST00000303391.11:c.1205C>T
ENST00000453960.7:c.1241C>T
ENST00000303391.10:c.1205C>T
ENST00000407218.5:c.*577C>T
ENST00000453960.6:c.1241C>T
ENST00000619732.4:c.1205C>T
ENST00000628176.2:c.*577C>T
NM_001110792.1:c.1241C>T
NM_001316337.1:c.926C>T
NM_004992.3:c.1205C>T
NM_001316337.2:c.926C>T
NM_001369391.2:c.926C>T
NM_001369392.2:c.926C>T
NM_001369393.2:c.926C>T
NM_001369394.1:c.926C>T
NM_001369394.2:c.926C>T
NM_001386137.1:c.536C>T
NM_001386138.1:c.536C>T
NM_001386139.1:c.536C>T
NM_004992.4:c.1205C>T

Benign

Met criteria codes 2
BS1 BS2
Not Met criteria codes 1
BA1

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.Pro402Leu variant in MECP2 (NM_004992) is 0.011% in European (Non-Finnish) 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.Pro402Leu variant is observed in at least 4 unaffected individuals (PMID 12384770) (BS2). In summary the p.Pro402Leu variant in MECP2 is classified as Benign for Rett syndrome disorder based on the ACMG/AMP criteria (BS1, BS2).
Met criteria codes
BS1
The allele frequency of the p.(Pro402Leu) variant in MEP2 is 0.011% in European (Non-Finnish) 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
The p.(Pro402Leu) variant is observed in at least 4 unaffected individuals (PMID 12384770) BS2
Not Met criteria codes
BA1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
Approved on: 2022-05-11
Published on: 2022-06-28
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