Evidence Repository - Clinical Genome Resources

The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]

Link to SEPIO compliant JSON-LD document

Variant: NM_001110792.2(MECP2):c.727G>A (p.Gly243Arg)

CA294716

156669 (ClinVar)

Gene: MECP2

Condition: Rett syndrome

Inheritance Mode: X-linked inheritance

Link to MONDO

UUID: b8df146f-25d6-43ed-a038-6945661b8df1

Approved on: 2022-12-08

Published on: 2022-12-23

HGVS expressions

NM_001110792.2:c.727G>A

NM_001110792.2(MECP2):c.727G>A (p.Gly243Arg)

NC_000023.11:g.154031137C>T

CM000685.2:g.154031137C>T

NC_000023.10:g.153296588C>T

CM000685.1:g.153296588C>T

NC_000023.9:g.152949782C>T

NG_007107.2:g.110991G>A

NG_007107.3:g.110967G>A

ENST00000303391.11:c.691G>A

ENST00000453960.7:c.727G>A

ENST00000637917.1:n.66-201G>A

ENST00000303391.10:c.691G>A

ENST00000407218.5:c.*63G>A

ENST00000453960.6:c.727G>A

ENST00000619732.4:c.691G>A

ENST00000622433.4:c.679G>A

ENST00000628176.2:c.*63G>A

NM_001110792.1:c.727G>A

NM_001316337.1:c.412G>A

NM_004992.3:c.691G>A

NM_001316337.2:c.412G>A

NM_001369391.2:c.412G>A

NM_001369392.2:c.412G>A

NM_001369393.2:c.412G>A

NM_001369394.1:c.412G>A

NM_001369394.2:c.412G>A

NM_001386137.1:c.22G>A

NM_001386138.1:c.22G>A

NM_001386139.1:c.22G>A

NM_004992.4:c.691G>A

Likely Benign

BS2 BP5

BS1 BP4 PS4 PP3 PM2

Evidence Links 0

Expert Panel

Rett and Angelman-like Disorders VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Rett and Angelman-like Disorders VCEP

The p.Gly231Arg variant in MECP2 (NM_004992.3) is observed in 3 unaffected individuals (PMID: 28250423, internal database) (BS2). The p.Gly243Arg variant is reported in one male with autism, and one female with intellectual and developmental disabilities and seizures (PMID: 28250423, 24321989) (PS4 not met). The p.Gly231Arg variant is found in a patient with an alternate molecular basis of disease (internal database) (BP5). In summary, the p.Gly231Arg variant in MECP2 is classified as Likely Benign based on the ACMG/AMP criteria (BS2, BP5).

BS2

The p.Gly231Arg variant in MECP2 (NM_004992.3) is observed in at least 3 unaffected individuals (PMID: 28250423, internal database).

BP5

The p.Gly231Arg variant in MECP2 (NM_004992.3) is found in a patient with an alternate molecular basis of disease (internal database).

BS1

gnomAD MAF = 0.00010 (< 0.00008)

BP4

No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline

PS4

The c.727G>A (p.Gly243Arg) variant has been observed in 2 individuals with neurodevelopmental disorders. ( PMID: 28250423, 24321989).

PP3

REVEL = 0.453

PM2

1 het, 1 hemi (50-55 yo European) in gnomAD

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