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

Variant: NM_001110792.2(MECP2):c.414-3C>T

CA10558616

522665 (ClinVar)

Gene: MECP2
Condition: Rett syndrome
Inheritance Mode: X-linked inheritance
Link to MONDO
UUID: b85a7f87-970a-4713-8132-527d4b4713ec
Approved on: 2022-02-18
Published on: 2022-06-30

HGVS expressions

NM_001110792.2:c.414-3C>T
NM_001110792.2(MECP2):c.414-3C>T
NC_000023.11:g.154031453G>A
CM000685.2:g.154031453G>A
NC_000023.10:g.153296904G>A
CM000685.1:g.153296904G>A
NC_000023.9:g.152950098G>A
NG_007107.2:g.110675C>T
NG_007107.3:g.110651C>T
ENST00000303391.11:c.378-3C>T
ENST00000453960.7:c.414-3C>T
ENST00000637917.1:n.11-3C>T
ENST00000303391.10:c.378-3C>T
ENST00000369957.5:c.*432-3C>T
ENST00000407218.5:c.414-3C>T
ENST00000453960.6:c.414-3C>T
ENST00000486506.5:n.2726-3C>T
ENST00000611468.1:c.366-3C>T
ENST00000619732.4:c.378-3C>T
ENST00000622433.4:c.366-3C>T
ENST00000628176.2:c.378-3C>T
NM_001110792.1:c.414-3C>T
NM_001316337.1:c.99-3C>T
NM_004992.3:c.378-3C>T
NM_001316337.2:c.99-3C>T
NM_001369391.2:c.99-3C>T
NM_001369392.2:c.99-3C>T
NM_001369393.2:c.99-3C>T
NM_001369394.1:c.99-3C>T
NM_001369394.2:c.99-3C>T
NM_001386137.1:c.-183-3C>T
NM_001386138.1:c.-183-3C>T
NM_001386139.1:c.-183-3C>T
NM_004992.4:c.378-3C>T
More

Benign

Met criteria codes 3
BS2 BP5 BA1
Not Met criteria codes 1
PP3

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 c.378-3C>T variant in MECP2 (NM_004992.3) has an allele frequency of 0.038% in "Other" 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 c.378-3C>T variant is observed in at least 2 unaffected individuals (Invitae internal database) (BS2). The c.378-3C>T variant is found in a patient with an alternate molecular basis of disease (Invitae internal database) (BP5). In summary, the c.378-3C>T variant in MECP2 is classified as benign for Rett Syndrome based on the ACMG/AMP criteria (BA1, BS2, BP5).
Met criteria codes
BS2
The c.378-3C>T variant is observed in at least 2 unaffected individuals (Invitae internal database).
BP5
The c.378-3C>T variant is found in a patient with an alternate molecular basis of disease (Invitae internal database).
BA1
The c.378-3C>T variant in MECP2 has an allele frequency of 0.038% in the Other 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).
Not Met criteria codes
PP3
Splicing prediction on this position does not support an impact (MaxEntScan, NNSPLICE, HumanspliceFinder)
Curation History
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.