Variant: NM_001110792.2(MECP2):c.260C>T (p.Pro87Leu)

CA170272

143504 (ClinVar)

Gene: MECP2

Condition: Rett syndrome

Inheritance Mode: X-linked inheritance

UUID: ddb1c36d-ce11-4d3d-934c-55ce859dee8f

Approved on: 2022-10-11

Published on: 2022-12-02

HGVS expressions

NM_001110792.2:c.260C>T
NM_001110792.2(MECP2):c.260C>T (p.Pro87Leu)
NC_000023.11:g.154032360G>A
CM000685.2:g.154032360G>A
NC_000023.10:g.153297811G>A
CM000685.1:g.153297811G>A
NC_000023.9:g.152951005G>A
NG_007107.2:g.109768C>T
NG_007107.3:g.109744C>T
ENST00000303391.11:c.224C>T
ENST00000453960.7:c.260C>T
ENST00000303391.10:c.224C>T
ENST00000369957.5:c.*278C>T
ENST00000407218.5:c.260C>T
ENST00000453960.6:c.260C>T
ENST00000486506.5:n.2572C>T
ENST00000611468.1:c.212C>T
ENST00000619732.4:c.224C>T
ENST00000622433.4:c.212C>T
ENST00000628176.2:c.224C>T
NM_001110792.1:c.260C>T
NM_001316337.1:c.-56C>T
NM_004992.3:c.224C>T
NM_001316337.2:c.-56C>T
NM_001369391.2:c.-56C>T
NM_001369392.2:c.-56C>T
NM_001369393.2:c.-56C>T
NM_001369394.1:c.-56C>T
NM_001369394.2:c.-56C>T
NM_001386137.1:c.-337C>T
NM_001386138.1:c.-337C>T
NM_001386139.1:c.-337C>T
NM_004992.4:c.224C>T

Benign

• Met criteria codes: BA1

• Not Met criteria codes: BP4 PM1

Expert Panel

Rett and Angelman-like Disorders VCEP

Criteria Specification Information

Evidence submitted by expert panel

Rett and Angelman-like Disorders VCEP

The allele frequency of the p.Pro75Leu variant in MECP2 (NM_004992.3) is 0.038% in the Other 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). In summary, the p.Pro75Leu variant in MECP2 is classified as Benign based on the ACMG/AMP criteria (BA1).

Met criteria codes

• BA1: The allele frequency of the p.Pro75Leu variant in MECP2 (NM_004992.3) is 0.038% in the Other 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).

Not Met criteria codes

• BP4: No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
• PM1: No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline