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]

Variant: NM_001110792.2(MECP2):c.1162C>T (p.Pro388Ser)

Curation Version - 1.0
Curation History
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CA148292

95184 (ClinVar)

Gene: MECP2

Condition: Rett syndrome

Inheritance Mode: X-linked inheritance

Link to MONDO

UUID: 42ed0077-9bfb-41a6-9c0b-f3dedb097940

Approved on: 2022-04-28

Published on: 2022-06-28

HGVS expressions

NM_001110792.2:c.1162C>T

NM_001110792.2(MECP2):c.1162C>T (p.Pro388Ser)

NC_000023.11:g.154030702G>A

CM000685.2:g.154030702G>A

NC_000023.10:g.153296153G>A

CM000685.1:g.153296153G>A

NC_000023.9:g.152949347G>A

NG_007107.2:g.111426C>T

NG_007107.3:g.111402C>T

ENST00000303391.11:c.1126C>T

ENST00000453960.7:c.1162C>T

ENST00000303391.10:c.1126C>T

ENST00000407218.5:c.*498C>T

ENST00000453960.6:c.1162C>T

ENST00000619732.4:c.1126C>T

ENST00000628176.2:c.*498C>T

NM_001110792.1:c.1162C>T

NM_001316337.1:c.847C>T

NM_004992.3:c.1126C>T

NM_001316337.2:c.847C>T

NM_001369391.2:c.847C>T

NM_001369392.2:c.847C>T

NM_001369393.2:c.847C>T

NM_001369394.1:c.847C>T

NM_001369394.2:c.847C>T

NM_001386137.1:c.457C>T

NM_001386138.1:c.457C>T

NM_001386139.1:c.457C>T

NM_004992.4:c.1126C>T

Benign

BA1 BS2

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 c.1126C>T, p.(Pro376Ser) variant in MECP2 (NM_004992.4) is 0.13% in European (Non-Finnish) 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). The p.(Pro376Ser) variant is observed in at least 2 unaffected individuals (PMID 10944854, PMID 14560307, RettBASE) (BS1). In summary, the p.(Pro376Ser) variant in MECP2 is classified as Benign based on the ACMG/AMP criteria applied (BA1, BS2).

BA1

The allele frequency of the p.(Pro376Ser) variant in MECP2 is 0.13% in European (Non-Finnish) 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)

BS2

The p.(Pro376Ser) variant is observed in at least 2 unaffected individuals (PMID 10944854, PMID 14560307, RettBASE)

Curation History

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