Evidence Repository - Clinical Genome Resources

The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]

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Variant: NM_001110792.2(MECP2):c.191A>G (p.His64Arg)

CA170263

143494 (ClinVar)

Gene: MECP2

Condition: Rett syndrome

Inheritance Mode: X-linked inheritance

Link to MONDO

UUID: 6df1d753-4719-4799-9a41-de087cce3897

Approved on: 2022-10-11

Published on: 2022-12-02

HGVS expressions

NM_001110792.2:c.191A>G

NM_001110792.2(MECP2):c.191A>G (p.His64Arg)

NC_000023.11:g.154032429T>C

CM000685.2:g.154032429T>C

NC_000023.10:g.153297880T>C

CM000685.1:g.153297880T>C

NC_000023.9:g.152951074T>C

NG_007107.2:g.109699A>G

NG_007107.3:g.109675A>G

ENST00000303391.11:c.155A>G

ENST00000453960.7:c.191A>G

ENST00000303391.10:c.155A>G

ENST00000369957.5:c.*209A>G

ENST00000407218.5:c.191A>G

ENST00000453960.6:c.191A>G

ENST00000486506.5:n.2503A>G

ENST00000496908.5:n.286A>G

ENST00000611468.1:c.143A>G

ENST00000619732.4:c.155A>G

ENST00000622433.4:c.143A>G

ENST00000628176.2:c.155A>G

ENST00000631210.1:n.434A>G

NM_001110792.1:c.191A>G

NM_001316337.1:c.-125A>G

NM_004992.3:c.155A>G

NM_001316337.2:c.-125A>G

NM_001369391.2:c.-125A>G

NM_001369392.2:c.-125A>G

NM_001369393.2:c.-125A>G

NM_001369394.1:c.-125A>G

NM_001369394.2:c.-125A>G

NM_001386137.1:c.-406A>G

NM_001386138.1:c.-406A>G

NM_001386139.1:c.-406A>G

NM_004992.4:c.155A>G

Benign

BA1

BP4 PM1

Evidence Links 0

Expert Panel

Rett and Angelman-like Disorders VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Rett and Angelman-like Disorders VCEP

The allele frequency of the p.His52Arg variant in MECP2 (NM_004992.3) is 0.121% in the 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 p.His52Arg variant in MECP2 is classified as Benign based on the ACMG/AMP criteria (BA1).

BA1

BP4

REVEL score 0.528.

PM1

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

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