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.1455G>C (p.Glu485Asp)

CA10558429

431908 (ClinVar)

Gene: MECP2

Condition: Rett syndrome

Inheritance Mode: X-linked inheritance

Link to MONDO

UUID: 447cc8f6-ee34-4553-86fe-ba1983558606

Approved on: 2023-10-13

Published on: 2023-12-08

HGVS expressions

NM_001110792.2:c.1455G>C

NM_001110792.2(MECP2):c.1455G>C (p.Glu485Asp)

NC_000023.11:g.154030409C>G

CM000685.2:g.154030409C>G

NC_000023.10:g.153295860C>G

CM000685.1:g.153295860C>G

NC_000023.9:g.152949054C>G

NG_007107.2:g.111719G>C

NG_007107.3:g.111695G>C

ENST00000303391.11:c.1419G>C

ENST00000453960.7:c.1455G>C

ENST00000303391.10:c.1419G>C

ENST00000453960.6:c.1455G>C

ENST00000619732.4:c.1419G>C

ENST00000628176.2:c.*791G>C

NM_001110792.1:c.1455G>C

NM_001316337.1:c.1140G>C

NM_004992.3:c.1419G>C

NM_001316337.2:c.1140G>C

NM_001369391.2:c.1140G>C

NM_001369392.2:c.1140G>C

NM_001369393.2:c.1140G>C

NM_001369394.1:c.1140G>C

NM_001369394.2:c.1140G>C

NM_001386137.1:c.750G>C

NM_001386138.1:c.750G>C

NM_001386139.1:c.750G>C

NM_004992.4:c.1419G>C

Benign

BS2 BS1 BP5

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.Glu473Asp variant in MECP2 (NM_004992.3) is 0.019% in Other sub population in gnomAD, which is high enough to meet the BS1 criteria based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions (BS1). The p.Glu473Asp variant is observed in at least 4 unaffected individuals (internal database - Invitae) (BS2). The p.Glu473Asp variant is found in an individual with an alternate molecular basis of disease (internal database - Invitae) (BP5). In summary, the p.Glu473Asp variant in MECP2 is classified as Benign based on the ACMG/AMP criteria (BS1, BS2, BP5).

BS2

The p.Glu473Asp variant is observed in at least 4 unaffected individuals (internal database - Invitae) (BS2).

BS1

The allele frequency of the p.Glu473Asp variant in MECP2 is 0.019% in Other sub population in gnomAD, which is high enough to meet the BS1 criteria based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions (BS1).

BP5

The p.Glu473Asp variant is found in an individual with an alternate molecular basis of disease (internal database - Invitae) (BP5).

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