Variant: NM_001110792.2(MECP2):c.1469G>A (p.Arg490Gln)

CA199452

156636 (ClinVar)

Gene: MECP2

Condition: Rett syndrome

Inheritance Mode: X-linked inheritance

UUID: 62eb4f24-b452-4aa8-a8a4-fae41cb24203

Approved on: 2022-02-18

Published on: 2022-06-30

HGVS expressions

NM_001110792.2:c.1469G>A
NM_001110792.2(MECP2):c.1469G>A (p.Arg490Gln)
NC_000023.11:g.154030395C>T
CM000685.2:g.154030395C>T
NC_000023.10:g.153295846C>T
CM000685.1:g.153295846C>T
NC_000023.9:g.152949040C>T
NG_007107.2:g.111733G>A
NG_007107.3:g.111709G>A
ENST00000303391.11:c.1433G>A
ENST00000453960.7:c.1469G>A
ENST00000303391.10:c.1433G>A
ENST00000453960.6:c.1469G>A
ENST00000619732.4:c.1433G>A
ENST00000628176.2:c.*805G>A
NM_001110792.1:c.1469G>A
NM_001316337.1:c.1154G>A
NM_004992.3:c.1433G>A
NM_001316337.2:c.1154G>A
NM_001369391.2:c.1154G>A
NM_001369392.2:c.1154G>A
NM_001369393.2:c.1154G>A
NM_001369394.1:c.1154G>A
NM_001369394.2:c.1154G>A
NM_001386137.1:c.764G>A
NM_001386138.1:c.764G>A
NM_001386139.1:c.764G>A
NM_004992.4:c.1433G>A

Likely Benign

• Met criteria codes: BS2 BP5

Expert Panel

Rett and Angelman-like Disorders VCEP

Criteria Specification Information

Evidence submitted by expert panel

Rett and Angelman-like Disorders VCEP

The p.Arg478Gln variant in MECP2 (NM_004992.3) is observed in at least 2 unaffected individuals (GeneDx internal database) (BS2). The p.Arg478Gln variant is found in a patient with an alternate molecular basis of disease (Invitae internal database) (BP5). In summary, the p.Arg478Gln variant in MECP2 is classified as likely benign based on the ACMG/AMP criteria (BS2, BP5).

Met criteria codes

• BS2: The p.Arg478Gln variant is observed in at least 2 unaffected individuals (GeneDx internal database).
• BP5: The p.Arg478Gln variant is found in a patient with an alternate molecular basis of disease (Invitae internal database).