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.877G>A (p.Ala293Thr)

CA10558543

386725 (ClinVar)

Gene: MECP2
Condition: Rett syndrome
Inheritance Mode: X-linked inheritance
Link to MONDO
UUID: 2f74986e-d5ce-493c-b0bb-09d790cb4c9f
Approved on: 2023-10-13
Published on: 2023-12-08

HGVS expressions

NM_001110792.2:c.877G>A
NM_001110792.2(MECP2):c.877G>A (p.Ala293Thr)
NC_000023.11:g.154030987C>T
CM000685.2:g.154030987C>T
NC_000023.10:g.153296438C>T
CM000685.1:g.153296438C>T
NC_000023.9:g.152949632C>T
NG_007107.2:g.111141G>A
NG_007107.3:g.111117G>A
ENST00000303391.11:c.841G>A
ENST00000453960.7:c.877G>A
ENST00000637917.1:c.66-51G>A
ENST00000303391.10:c.841G>A
ENST00000407218.5:c.*213G>A
ENST00000453960.6:c.877G>A
ENST00000619732.4:c.841G>A
ENST00000622433.4:c.829G>A
ENST00000628176.2:c.*213G>A
NM_001110792.1:c.877G>A
NM_001316337.1:c.562G>A
NM_004992.3:c.841G>A
NM_001316337.2:c.562G>A
NM_001369391.2:c.562G>A
NM_001369392.2:c.562G>A
NM_001369393.2:c.562G>A
NM_001369394.1:c.562G>A
NM_001369394.2:c.562G>A
NM_001386137.1:c.172G>A
NM_001386138.1:c.172G>A
NM_001386139.1:c.172G>A
NM_004992.4:c.841G>A
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Benign

Met criteria codes 2
BA1 BS2
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.Ala281Thr variant in MECP2 (NM_004992.3) is 0.037% in the South Asian sub population in gnomAD, which is high enough to be classified as benign based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions (BA1). The p.Ala281Thr variant is observed in at least 8 unaffected individuals (internal database - Invitae) (BS2). In summary, the p.Ala281Thr variant in MECP2 is classified as Benign based on the ACMG/AMP criteria (BA1, BS2).
Met criteria codes
BA1
The allele frequency of the p.Ala281Thr variant in MECP2 is 0.037% in the South Asian sub population in gnomAD, which is high enough to be classified as benign based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions.
BS2
The p.Ala281Thr variant is observed in at least 8 unaffected individuals (internal database - Invitae) (BS2).
Not Met criteria codes
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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