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Variant: NM_001110792.2(MECP2):c.1318G>A (p.Gly440Ser)

CA121707

11831 (ClinVar)

Gene: MECP2
Condition: Rett syndrome
Inheritance Mode: X-linked inheritance
UUID: e4f79d84-f9c0-4e1b-84c1-fb00225eea4d
Approved on: 2022-05-10
Published on: 2022-06-28

HGVS expressions

NM_001110792.2:c.1318G>A
NM_001110792.2(MECP2):c.1318G>A (p.Gly440Ser)
NC_000023.11:g.154030546C>T
CM000685.2:g.154030546C>T
NC_000023.10:g.153295997C>T
CM000685.1:g.153295997C>T
NC_000023.9:g.152949191C>T
NG_007107.2:g.111582G>A
NG_007107.3:g.111558G>A
ENST00000303391.11:c.1282G>A
ENST00000453960.7:c.1318G>A
ENST00000303391.10:c.1282G>A
ENST00000453960.6:c.1318G>A
ENST00000619732.4:c.1282G>A
ENST00000628176.2:c.*654G>A
NM_001110792.1:c.1318G>A
NM_001316337.1:c.1003G>A
NM_004992.3:c.1282G>A
NM_001316337.2:c.1003G>A
NM_001369391.2:c.1003G>A
NM_001369392.2:c.1003G>A
NM_001369393.2:c.1003G>A
NM_001369394.1:c.1003G>A
NM_001369394.2:c.1003G>A
NM_001386137.1:c.613G>A
NM_001386138.1:c.613G>A
NM_001386139.1:c.613G>A
NM_004992.4:c.1282G>A
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Benign

Met criteria codes 2
BS2 BS1
Not Met criteria codes 1
PP3

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.Gly428Ser (NM_004992) variant in MECP2 is 0.014% in gnomAD, which is high enough to meet BS1 criteria based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions (BS1). The p.Gly428Ser variant is observed in at least 2 unaffected individuals (PMID: 11238684, PMID: 12161600) (BS2). In summary the p.Gly428Ser variant in MECP2 is classified as Benign for Rett Syndrome based on the ACMG/AMP criteria (BS1, BS2).
Met criteria codes
BS2
The p.Gly428Ser variant is observed in at least 2 unaffected individuals (PMID: 11238684,PMID: 12161600)
BS1
The allele frequency of the p.Gly428Ser variant in MECP2 is 0.014% in gnomAD, which is high enough to be classified as likely benign based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions.
Not Met criteria codes
PP3
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
Curation History
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