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]

Link to SEPIO compliant JSON-LD document

Variant: NM_001110792.2(MECP2):c.715C>G (p.Gln239Glu)

CA170355

143656 (ClinVar)

Gene: MECP2

Condition: Rett syndrome

Inheritance Mode: X-linked inheritance

Link to MONDO

UUID: 5a5d0499-c0dc-48dc-8fbd-064e1d03be74

Approved on: 2022-10-11

Published on: 2022-12-02

HGVS expressions

NM_001110792.2:c.715C>G

NM_001110792.2(MECP2):c.715C>G (p.Gln239Glu)

NC_000023.11:g.154031149G>C

CM000685.2:g.154031149G>C

NC_000023.10:g.153296600G>C

CM000685.1:g.153296600G>C

NC_000023.9:g.152949794G>C

NG_007107.2:g.110979C>G

NG_007107.3:g.110955C>G

ENST00000303391.11:c.679C>G

ENST00000453960.7:c.715C>G

ENST00000637917.1:n.66-213C>G

ENST00000303391.10:c.679C>G

ENST00000407218.5:c.*51C>G

ENST00000453960.6:c.715C>G

ENST00000619732.4:c.679C>G

ENST00000622433.4:c.667C>G

ENST00000628176.2:c.*51C>G

NM_001110792.1:c.715C>G

NM_001316337.1:c.400C>G

NM_004992.3:c.679C>G

NM_001316337.2:c.400C>G

NM_001369391.2:c.400C>G

NM_001369392.2:c.400C>G

NM_001369393.2:c.400C>G

NM_001369394.1:c.400C>G

NM_001369394.2:c.400C>G

NM_001386137.1:c.10C>G

NM_001386138.1:c.10C>G

NM_001386139.1:c.10C>G

NM_004992.4:c.679C>G

Uncertain Significance

PM2_Supporting BS2_Supporting

PP4 PP3 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 p.Gln227Glu variant in MECP2 (NM_004992.3) has been reported in an individual with clinical features of MECP2-related conditions (PMID 17383248). The p.Gln227Glu variant in MECP2 is absent from gnomAD (PM2_supporting). The p.Gln227Glu variant is observed in at least 1 unaffected male (internal database - Invitae) (BS2_supporting). In summary, the p.Gln227Glu variant in MECP2 is classified as a Variant of Uncertain Significance based on the ACMG/AMP criteria (PM2_supporting, BS2_supporting).

PM2_Supporting

The p.Gln227Glu variant in MECP2 is absent from gnomAD (PM2_supporting).

BS2_Supporting

The p.Gln227Glu variant is observed in at least 1 unaffected individuals (internal database - Invitae) (BS2_supporting).

PP4

The p.Gln227Glu variant in MECP2 has been reported in an individual with clinical features of MECP2-related conditions (PMID 17383248).

PP3

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

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