Variant: NM_001110792.2(MECP2):c.1174G>A (p.Val392Met)

CA199319

143344 (ClinVar)

Gene: MECP2

Condition: Rett syndrome

Inheritance Mode: X-linked inheritance

UUID: b26119fb-9e22-4462-a5e1-932df26bc559

Approved on: 2021-12-13

Published on: 2021-12-27

HGVS expressions

NM_001110792.2:c.1174G>A
NM_001110792.2(MECP2):c.1174G>A (p.Val392Met)
NC_000023.11:g.154030690C>T
CM000685.2:g.154030690C>T
NC_000023.10:g.153296141C>T
CM000685.1:g.153296141C>T
NC_000023.9:g.152949335C>T
NG_007107.2:g.111438G>A
NG_007107.3:g.111414G>A
ENST00000303391.11:c.1138G>A
ENST00000453960.7:c.1174G>A
ENST00000303391.10:c.1138G>A
ENST00000407218.5:c.*510G>A
ENST00000453960.6:c.1174G>A
ENST00000619732.4:c.1138G>A
ENST00000628176.2:c.*510G>A
NM_001110792.1:c.1174G>A
NM_001316337.1:c.859G>A
NM_004992.3:c.1138G>A
NM_001316337.2:c.859G>A
NM_001369391.2:c.859G>A
NM_001369392.2:c.859G>A
NM_001369393.2:c.859G>A
NM_001369394.1:c.859G>A
NM_001369394.2:c.859G>A
NM_001386137.1:c.469G>A
NM_001386138.1:c.469G>A
NM_001386139.1:c.469G>A
NM_004992.4:c.1138G>A

Benign

• Met criteria codes: BA1

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.Val380Met (NM_004992.3) variant in MECP2 is 0.138% in Latino 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.Val380Met variant in MECP2 is classified as benign based on the ACMG/AMP criteria (BA1).

Met criteria codes

• BA1: The allele frequency of the p.Val392Met variant in MECP2 is 0.138% in Latino 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.