NM_018489.2:c.3838C>T

Report protein consequencep.Arg1280*

Normalized MANE/map notationNM_018489.3:c.3838C>T · NP_060959.2:p.Arg1280* — The reviewed GeneDx report uses NM_018489.2. NM_018489.2 and MANE Select NM_018489.3 use the same coding coordinate here, so c.3838C>T and p.Arg1280* map 1:1.

This is the story of an affectionate, music-loving adolescent girl in the 11–15 age group with a reported de novo ASH1L nonsense variant, intellectual disability, childhood apraxia of speech, epilepsy, severe anxiety, sensory differences, and a history of developmental and school regression. Her earliest seizures were subtle staring events. More recently, her family witnessed two motor or convulsive seizures. After her medication was increased, no further overt motor or convulsive events were reported, while staring events remained part of her history. She learns especially well through songs and jingles, participates in multiple Special Olympics sports, and becomes openly affectionate and eager to connect once she feels comfortable with someone.

Profile at a glance

22 sections · 5 chapters

Zygosity: Heterozygous
Molecular consequence: Nonsense / stop-gain
Laboratory classification: Pathogenic
Classification source: Original report reviewed
Inheritance: De novo
Inheritance source: Original report reviewed
Parental testing: The variant was not detected in either tested parent; the report states that germline mosaicism cannot be excluded.
Relevant additional finding: No other nuclear variant possibly associated with the phenotype and no ACMG secondary finding were identified; mitochondrial results were reported separately.
Variant type: Nonsense / stop-gain
Sex: Female
Age group: Ages 11–15
Protein position: Premature stop · aa 1,280

The reviewed laboratory report classified this molecular result as pathogenic. The molecular result anchors this profile; the longitudinal history preserves the individual pattern across systems, abilities, and time.

ASH1L LONGITUDINAL CASE PROFILE

Report transcript + cDNA

NM_018489.2:c.3838C>T

Report protein consequencep.Arg1280*

Profile at a glance

22 sections · 5 chapters

Zygosity: Heterozygous
Molecular consequence: Nonsense / stop-gain
Laboratory classification: Pathogenic
Classification source: Original report reviewed
Inheritance: De novo
Inheritance source: Original report reviewed
Parental testing: The variant was not detected in either tested parent; the report states that germline mosaicism cannot be excluded.
Relevant additional finding: No other nuclear variant possibly associated with the phenotype and no ACMG secondary finding were identified; mitochondrial results were reported separately.
Variant type: Nonsense / stop-gain
Sex: Female
Age group: Ages 11–15
Protein position: Premature stop · aa 1,280

NM_018489.2:c.3838C>T

NM_018489.2:c.3838C>T

Who she is

Genetic finding and interpretation

Early development and infancy

Speech, apraxia, and communication

Learning, memory, and school supports

Anxiety, emotional regulation, and routines

Sensory differences and self-regulation

Autism assessments

ADHD history and medication response

Staring events, regression, and the epilepsy diagnosis

Two later motor or convulsive seizures

Concerning nighttime episodes

EEG history

Brain MRI history

Sleep, fatigue, and waking

Motor development, coordination, and adaptive sports

Feeding, reflux, and food textures

Allergies, eczema, skin picking, and toenails

Menstrual regulation

Current medications, therapies, and supports

Other health history

The whole person and current picture