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.1120C>T (p.Pro374Ser)

CA415168068

429415 (ClinVar)

Gene: MECP2
Condition: Rett syndrome
Inheritance Mode: X-linked inheritance
Link to MONDO
UUID: 06cf7507-c288-40ba-bd1e-b620664b794d
Approved on: 2023-10-13
Published on: 2023-12-08

HGVS expressions

NM_001110792.2:c.1120C>T
NM_001110792.2(MECP2):c.1120C>T (p.Pro374Ser)
NC_000023.11:g.154030744G>A
CM000685.2:g.154030744G>A
NC_000023.10:g.153296195G>A
CM000685.1:g.153296195G>A
NC_000023.9:g.152949389G>A
NG_007107.2:g.111384C>T
NG_007107.3:g.111360C>T
ENST00000303391.11:c.1084C>T
ENST00000453960.7:c.1120C>T
ENST00000303391.10:c.1084C>T
ENST00000407218.5:c.*456C>T
ENST00000453960.6:c.1120C>T
ENST00000619732.4:c.1084C>T
ENST00000628176.2:c.*456C>T
NM_001110792.1:c.1120C>T
NM_001316337.1:c.805C>T
NM_004992.3:c.1084C>T
NM_001316337.2:c.805C>T
NM_001369391.2:c.805C>T
NM_001369392.2:c.805C>T
NM_001369393.2:c.805C>T
NM_001369394.1:c.805C>T
NM_001369394.2:c.805C>T
NM_001386137.1:c.415C>T
NM_001386138.1:c.415C>T
NM_001386139.1:c.415C>T
NM_004992.4:c.1084C>T
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Likely Benign

Met criteria codes 1
BS2
Not Met criteria codes 2
BS1 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 p.Pro362Ser variant in MECP2 (NM_004992.3) is present in 1 XX and 1 XY individual in gnomAD (0.0011%) (not sufficient to meet BS1 criteria). The p.Pro362Ser variant in MECP2 is observed in at least 3 unaffected individuals (internal database - Invitae) (BS2). In the absence of conflicting evidence, this is sufficient evidence to classify as likely benign based on the specifications defined by the ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel. In summary, the p.Pro362Ser variant in MECP2 is classified as Likely Benign based on the ACMG/AMP criteria (BS2).
Met criteria codes
BS2
The p.Pro362Ser variant in MECP2 (NM_004992.3) is observed in at least 3 unaffected individuals (internal database - Invitae) (BS2).
Not Met criteria codes
BS1
The p.Pro362Ser variant in MECP2 is present in 1 XX and 1 XY individual in gnomAD (0.0011%) (not sufficient to meet BS1 criteria).
BP4
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
Curation History
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