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.1351G>T (p.Ala451Ser)

CA222801

95190 (ClinVar)

Gene: MECP2
Condition: Rett syndrome
Inheritance Mode: X-linked inheritance
Link to MONDO
UUID: 59bf97c6-4a96-4fae-84d2-0bd8b32390ba
Approved on: 2022-10-11
Published on: 2024-03-13

HGVS expressions

NM_001110792.2:c.1351G>T
NM_001110792.2(MECP2):c.1351G>T (p.Ala451Ser)
NC_000023.11:g.154030513C>A
CM000685.2:g.154030513C>A
NC_000023.10:g.153295964C>A
CM000685.1:g.153295964C>A
NC_000023.9:g.152949158C>A
NG_007107.2:g.111615G>T
NG_007107.3:g.111591G>T
ENST00000303391.11:c.1315G>T
ENST00000453960.7:c.1351G>T
ENST00000303391.10:c.1315G>T
ENST00000453960.6:c.1351G>T
ENST00000619732.4:c.1315G>T
ENST00000628176.2:c.*687G>T
NM_001110792.1:c.1351G>T
NM_001316337.1:c.1036G>T
NM_004992.3:c.1315G>T
NM_001316337.2:c.1036G>T
NM_001369391.2:c.1036G>T
NM_001369392.2:c.1036G>T
NM_001369393.2:c.1036G>T
NM_001369394.1:c.1036G>T
NM_001369394.2:c.1036G>T
NM_001386137.1:c.646G>T
NM_001386138.1:c.646G>T
NM_001386139.1:c.646G>T
NM_004992.4:c.1315G>T

Benign

Met criteria codes 1
BA1
Not Met criteria codes 2
BP4 PM1

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.Ala439Ser variant in MECP2 (NM_004992.3) is 0.04208% in the African/African-American 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). In summary, the p.Ala439Ser variant in MECP2 is classified as Benign based on the ACMG/AMP criteria (BA1).
Met criteria codes
BA1
The allele frequency of the p.Ala439Ser variant in MECP2 (NM_004992.3) is 0.04% in the African/African-American 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
BP4
REVEL score 0.423.
PM1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
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.