Evidence Repository
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
  • No CSPEC related information was provided by the message!
  • See Evidence submitted by expert panel for details.

Variant: NM_001110792.2(MECP2):c.563C>A (p.Pro188His)

CA245268

197246 (ClinVar)

Gene: MECP2
Condition: Rett syndrome
Inheritance Mode: X-linked inheritance
Link to MONDO
UUID: 5115dac9-1941-4226-8241-2d62d5bc1bf9

HGVS expressions

NM_001110792.2:c.563C>A
NM_001110792.2(MECP2):c.563C>A (p.Pro188His)
NC_000023.11:g.154031301G>T
CM000685.2:g.154031301G>T
NC_000023.10:g.153296752G>T
CM000685.1:g.153296752G>T
NC_000023.9:g.152949946G>T
NG_007107.2:g.110827C>A
NG_007107.3:g.110803C>A
ENST00000303391.11:c.527C>A
ENST00000453960.7:c.563C>A
ENST00000637917.1:n.65+95C>A
ENST00000303391.10:c.527C>A
ENST00000407218.5:c.469-15C>A
ENST00000453960.6:c.563C>A
ENST00000486506.5:n.2875C>A
ENST00000619732.4:c.527C>A
ENST00000622433.4:c.515C>A
ENST00000628176.2:c.433-15C>A
NM_001110792.1:c.563C>A
NM_001316337.1:c.248C>A
NM_004992.3:c.527C>A
NM_001316337.2:c.248C>A
NM_001369391.2:c.248C>A
NM_001369392.2:c.248C>A
NM_001369393.2:c.248C>A
NM_001369394.1:c.248C>A
NM_001369394.2:c.248C>A
NM_001386137.1:c.-128-15C>A
NM_001386138.1:c.-128-15C>A
NM_001386139.1:c.-128-15C>A
NM_004992.4:c.527C>A

Likely Benign

Met criteria codes 2
BS1 BS2_Supporting
Not Met criteria codes 1
PS4

Evidence Links 0

Expert Panel

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.Pro176His variant in MECP2 (NM_004992.3) is 0.022% 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.Pro176His variant is observed in 1 unaffected individual (internal database) (BS2_supporting). In summary, the p.Pro176His variant in MECP2 is classified as Likely Benign based on the ACMG/AMP criteria (BA1, BS2_supporting).
Met criteria codes
BS1
The allele frequency of the p.Pro176His variant in MECP2 (NM_004992.3) is 0.022% 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).
BS2_Supporting
The p.Pro176His variant in MECP2 (NM_004992.3) is observed in 1 unaffected individual (internal database).
Not Met criteria codes
PS4
1 pt
Approved on: 2022-12-09
Published on: 2022-12-23
The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. If you have questions about the information contained on this website, please see a health care professional.
¤ Powered by BCM's Genboree.