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
  • See Evidence submitted by expert panel for details.

Variant: NM_001110792.2(MECP2):c.838C>T (p.Arg280Trp)

CA233007

143700 (ClinVar)

Gene: MECP2
Condition: Rett syndrome
Inheritance Mode: X-linked inheritance
Link to MONDO
UUID: e2ce1abc-f6a3-4a8a-bed8-da079fa97496
Approved on: 2021-10-28
Published on: 2021-12-27

HGVS expressions

NM_001110792.2:c.838C>T
NM_001110792.2(MECP2):c.838C>T (p.Arg280Trp)
NC_000023.11:g.154031026G>A
CM000685.2:g.154031026G>A
NC_000023.10:g.153296477G>A
CM000685.1:g.153296477G>A
NC_000023.9:g.152949671G>A
NG_007107.2:g.111102C>T
NG_007107.3:g.111078C>T
ENST00000303391.11:c.802C>T
ENST00000453960.7:c.838C>T
ENST00000637917.1:n.66-90C>T
ENST00000303391.10:c.802C>T
ENST00000407218.5:c.*174C>T
ENST00000453960.6:c.838C>T
ENST00000619732.4:c.802C>T
ENST00000622433.4:c.790C>T
ENST00000628176.2:c.*174C>T
NM_001110792.1:c.838C>T
NM_001316337.1:c.523C>T
NM_004992.3:c.802C>T
NM_001316337.2:c.523C>T
NM_001369391.2:c.523C>T
NM_001369392.2:c.523C>T
NM_001369393.2:c.523C>T
NM_001369394.1:c.523C>T
NM_001369394.2:c.523C>T
NM_001386137.1:c.133C>T
NM_001386138.1:c.133C>T
NM_001386139.1:c.133C>T
NM_004992.4:c.802C>T

Uncertain Significance

Met criteria codes 3
BS2 PP4 PP3
Not Met criteria codes 1
PM2

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 p.Arg268Trp variant in MECP2 (NM_004992.3) is observed in at least 2 unaffected individuals (PMID 12750821, internal database - Invitae) (BS2). The p.Arg268Trp variant in MECP2 has been reported in an individual with a clinical phenotype suggestive of Rett syndrome (PMID 18842453) (PP4). Computational prediction analysis tools suggests a deleterious impact; however, this information does not predict clinical significance on its own (PP3). The p.Arg268Trp variant in MECP2 is present in gnomAD v2.1.1 at a frequency of 0.0009792% (no criteria met). In summary, the p.Arg268Trp variant in MECP2 is classified as a Variant of Uncertain Significance based on the ACMG/AMP criteria (BS2, PP3, PP4).
Met criteria codes
BS2
The p.Arg268Trp variant is observed in at least 2 unaffected individuals (PMID 12750821, internal database - Invitae).
PP4
The p.Arg268Trp variant in MECP2 has been reported in an individual with a clinical phenotype suggestive of Rett syndrome (PMID: 18842453) (PP4).
PP3
Computational prediction analysis tools suggests a deleterious impact; however, this information does not predict clinical significance on its own (PP3).
Not Met criteria codes
PM2
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.