Variant: NM_001110792.2(MECP2):c.289C>T (p.Arg97Cys)

CA16621248

424578 (ClinVar)

Gene: MECP2

Condition: Rett syndrome

Inheritance Mode: X-linked inheritance

UUID: cbbd32b8-f74a-414e-b6b6-ace1f53568a9

Approved on: 2022-12-08

Published on: 2022-12-23

HGVS expressions

NM_001110792.2:c.289C>T
NM_001110792.2(MECP2):c.289C>T (p.Arg97Cys)
NC_000023.11:g.154032331G>A
CM000685.2:g.154032331G>A
NC_000023.10:g.153297782G>A
CM000685.1:g.153297782G>A
NC_000023.9:g.152950976G>A
NG_007107.2:g.109797C>T
NG_007107.3:g.109773C>T
ENST00000303391.11:c.253C>T
ENST00000453960.7:c.289C>T
ENST00000303391.10:c.253C>T
ENST00000369957.5:c.*307C>T
ENST00000407218.5:c.289C>T
ENST00000453960.6:c.289C>T
ENST00000486506.5:n.2601C>T
ENST00000611468.1:c.241C>T
ENST00000619732.4:c.253C>T
ENST00000622433.4:c.241C>T
ENST00000628176.2:c.253C>T
NM_001110792.1:c.289C>T
NM_001316337.1:c.-27C>T
NM_004992.3:c.253C>T
NM_001316337.2:c.-27C>T
NM_001369391.2:c.-27C>T
NM_001369392.2:c.-27C>T
NM_001369393.2:c.-27C>T
NM_001369394.1:c.-27C>T
NM_001369394.2:c.-27C>T
NM_001386137.1:c.-308C>T
NM_001386138.1:c.-308C>T
NM_001386139.1:c.-308C>T
NM_004992.4:c.253C>T

Uncertain Significance

• Met criteria codes: PM6 BS2_Supporting BP5

• Not Met criteria codes: PM2 BP4 PP3

Expert Panel

Rett and Angelman-like Disorders VCEP

Criteria Specification Information

Evidence submitted by expert panel

Rett and Angelman-like Disorders VCEP

The p.Arg85Cys variant in MECP2 (NM_004992.3) occurs in the de novo state (biological parentage unconfirmed) in one individual (3billion) (PM6). The p.Arg85Cys variant in MECP2 (NM_004992.3) is found in a patient with an alternate molecular basis of disease (internal database) (BP5). The p.Arg85Cys variant in MECP2 (NM_004992.3) is observed in 1 unaffected individuals (internal database) (BS2_supporting). Computational prediction analysis tools are inconclusive for this variant. In summary, the p.Arg85Cys variant in MECP2 (NM_004992.3) is classified as a variant of unknown significance based on the ACMG/AMP criteria (PM6, BP5, BS2_supporting).

Met criteria codes

• PM6: The p.Arg85Cys variant in MECP2 (NM_004992.3) occurs in the de novo state (biological parentage unconfirmed) in one individual (3billion).
• BS2_Supporting: The p.Arg85Cys variant in MECP2 (NM_004992.3) is observed in 1 unaffected individuals (Invitae).
• BP5: The p.Arg85Cys variant in MECP2 (NM_004992.3) is found in a patient with an alternate molecular basis of disease (Baylor Genetics).

Not Met criteria codes

• PM2: 1 allele in Ashkenazi Jewish
• BP4: REVEL=0.687
• PP3: REVEL=0.687