Clinician orientation sheet

Molecular result and profile context

Report cDNA

c.4043dup

Report protein consequence

p.(K1349Efs*7)

Report transcript accession

Not stated on the reviewed laboratory result page

Zygosity

Heterozygous

Molecular consequence

Frameshift with premature termination

Laboratory classification

Pathogenic

Classification source

Laboratory result page reviewed

Inheritance

De novo

Inheritance source

Laboratory result page reviewed

Parental testing

The variant was not detected in either tested parent, supporting a de novo occurrence; low-level parental or germline mosaicism cannot be completely excluded.

Relevant additional finding

Not reported on the available laboratory result page

Normalized protein-map notation

NP_060959.2:p.(Lys1349Glufs*7)

Variant type

Frameshift

Sex

Male

Age group

Ages 6–10

Protein position

First altered residue · aa 1,349

Approved public summary

A boy in the 6–10 age group with a de novo pathogenic ASH1L frameshift whose development is marked by meaningful gains and a distinctly uneven pattern of access. He may need a number line for a calculation such as 3 + 2 and has not yet memorized simple math facts, yet he understands greater-than and less-than relationships and can find coordinates. He communicates verbally, while prepositions and the smaller connecting words needed to build complete sentences remain difficult to organize. Across learning and daily life, concrete visual structure—including number lines, detailed schedules, and checklists—helps make abstract information and uncertain situations more manageable.