Variant: NM_001110792.2(MECP2):c.*14G>A

CA222800

95182 (ClinVar)

Gene: MECP2

Condition: Rett syndrome

Inheritance Mode: X-linked inheritance

UUID: 9f2e3fa1-69ad-40f4-bcfa-d9a3f66b49d1

Approved on: 2022-05-10

Published on: 2022-06-28

HGVS expressions

NM_001110792.2:c.*14G>A
NM_001110792.2(MECP2):c.*14G>A
NC_000023.11:g.154030353C>T
CM000685.2:g.154030353C>T
NC_000023.10:g.153295804C>T
CM000685.1:g.153295804C>T
NC_000023.9:g.152948998C>T
NG_007107.2:g.111775G>A
NG_007107.3:g.111751G>A
ENST00000303391.11:c.*14G>A
ENST00000453960.7:c.*14G>A
ENST00000303391.10:c.*14G>A
ENST00000453960.6:c.*14G>A
ENST00000619732.4:c.1471G>A
ENST00000628176.2:c.*847G>A
NM_001110792.1:c.*14G>A
NM_001316337.1:c.*14G>A
NM_004992.3:c.*14G>A
NM_001316337.2:c.*14G>A
NM_001369391.2:c.*14G>A
NM_001369392.2:c.*14G>A
NM_001369393.2:c.*14G>A
NM_001369394.1:c.*14G>A
NM_001369394.2:c.*14G>A
NM_001386137.1:c.*14G>A
NM_001386138.1:c.*14G>A
NM_001386139.1:c.*14G>A
NM_004992.4:c.*14G>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 c.*14G>A variant in MECP2 (NM_004992) is 0.34% in South Asian 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 c.*14G>A variant in MECP2 is classified as Benign based on the ACMG/AMP criteria (BA1).

Met criteria codes

• BA1: The allele frequency of the NM_004992.4:c.*14G>A , p.(=) variant in MECP2 is 0.34% in South Asian 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.