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.750G>A (p.Gly250=)

CA205378

211465 (ClinVar)

Gene: MECP2
Condition: Rett syndrome
Inheritance Mode: X-linked inheritance
Link to MONDO
UUID: c5824182-9ec7-4faf-be1d-f356f5465df8
Approved on: 2023-06-15
Published on: 2023-06-21

HGVS expressions

NM_001110792.2:c.750G>A
NM_001110792.2(MECP2):c.750G>A (p.Gly250=)
NC_000023.11:g.154031114C>T
CM000685.2:g.154031114C>T
NC_000023.10:g.153296565C>T
CM000685.1:g.153296565C>T
NC_000023.9:g.152949759C>T
NG_007107.2:g.111014G>A
NG_007107.3:g.110990G>A
ENST00000303391.11:c.714G>A
ENST00000453960.7:c.750G>A
ENST00000637917.1:n.66-178G>A
ENST00000303391.10:c.714G>A
ENST00000407218.5:c.*86G>A
ENST00000453960.6:c.750G>A
ENST00000619732.4:c.714G>A
ENST00000622433.4:c.702G>A
ENST00000628176.2:c.*86G>A
NM_001110792.1:c.750G>A
NM_001316337.1:c.435G>A
NM_004992.3:c.714G>A
NM_001316337.2:c.435G>A
NM_001369391.2:c.435G>A
NM_001369392.2:c.435G>A
NM_001369393.2:c.435G>A
NM_001369394.1:c.435G>A
NM_001369394.2:c.435G>A
NM_001386137.1:c.45G>A
NM_001386138.1:c.45G>A
NM_001386139.1:c.45G>A
NM_004992.4:c.714G>A
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Likely Benign

Met criteria codes 3
BS1 BP4 BP7

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 c.714G>A p.Gly238= variant in MECP2 is 0.008% in the African/African 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 silent p.Gly238= variant is not predicted to affect splicing using multiple computational tools and does not affect a highly conserved nucleotide (BP4, BP7). In summary, the c.714G>A p.Gly238= variant in MECP2 is classified as Likely Benign based on the ACMG/AMP criteria (BS1, BP4, BP7).
Met criteria codes
BS1
The allele frequency of the c.714G>A p.(Gly238=) variant in MECP2 is 0.008% in the African/African 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.
BP4
The silent p.(Gly238=) variant is not predicted to affect splicing using multiple computational tools and does not affect a highly conserved nucleotide.
BP7
The silent p.(Gly238=) variant is not predicted to affect splicing using multiple computational tools and does not affect a highly conserved nucleotide.
Curation History
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