TP53:c.266_267del

· ·

GRCh37: None · GRCh38: None

Gene: Transcript:

Final call

VUS

Variant details

Gene

Transcript

Protein

gnomAD AF

ClinVar

None

OncoKB

None

Classification rationale

Interpretation summary

Generated evidence synthesis

VUS: no criteria were met or applied, so no ACMG/AMP combination rule was satisfied.

Final determination:

Criteria assessment

ACMG/AMP criteria review

Criteria shown when status is available

All criteria require review: For research and educational purposes only.

Criterion	Status	Rationale	Evidence used
PVS1	Not assessed	Not assessed: the transcript context could not be resolved, so whether this 2-bp deletion causes a frameshift that triggers nonsense-mediated decay could not be determined.
PS1	Not assessed	Not assessed: no established pathogenic variant with the same amino-acid change was identified, and this 2-bp deletion produces a frameshift, not a single amino-acid substitution.
PS2	Not assessed	Not assessed: no de novo occurrence evidence from proband and parental testing was available.
PS3	Not assessed	Not assessed: insufficient functional or validated-assay evidence was available to evaluate the variant's effect.
PS4	Not assessed	Not assessed: no case-control data with affected and control allele counts were available.	generic_acmg_combination_rules
PM1	Not assessed	Not assessed: the protein position and domain context could not be resolved, so mutational hotspot or functional-domain status could not be evaluated.
PM2	Not assessed	Not assessed: no reliable population allele count or frequency was available, so absence from population databases could not be established.
PM3	Not assessed	Not assessed: no affected probands, segregation data, or documented pathogenic variant in trans were available.
PM4	Not assessed	Not assessed: without a resolved transcript consequence, whether this deletion is in-frame or frameshift could not be determined.
PM5	Not assessed	Not assessed: this 2-bp deletion causes a frameshift, not a missense substitution, so the classic same-residue PM5 comparison did not apply and no candidate was confirmed.
PM6	Not assessed	Not assessed: no clinical or family observation of an assumed de novo occurrence was available.
PP1	Not assessed	Not assessed: no segregation data from affected or unaffected relatives were available.
PP2	Not assessed	Not assessed: this is a 2-bp deletion, not a missense variant, so the missense-specific PP2 rule does not apply to it.
PP3	Not assessed	Not assessed: no calibrated computational prediction, splice or missense, was available for this 2-bp deletion.
PP4	Not assessed	Not assessed: no individual phenotype or phenotype-specificity evidence was available.	generic_acmg_combination_rules
PP5	Not assessed	Not assessed: no ClinVar expert-panel pathogenic or likely-pathogenic assertion for this exact variant was available.	generic_acmg_combination_rules
BA1	Not assessed	Not assessed: no allele frequency data were available, so the BA1 population-frequency threshold could not be evaluated.
BS1	Not assessed	Not assessed: no usable population frequency data were available to compare against the BS1 prevalence threshold.
BS2	Not assessed	Not assessed: no population homozygote observations or carrier disease-status data were available.
BS3	Not assessed	Not assessed: insufficient functional or validated-assay evidence was available to establish a benign effect.
BS4	Not assessed	Not assessed: no family members with known genotypes and phenotypes were reported, and absence of segregation cannot be inferred from missing data.
BP1	Not assessed	Not assessed: this is a 2-bp deletion, not a missense variant, so the missense-specific BP1 rule does not apply.
BP2	Not assessed	Not assessed: no observation of the variant in cis with a pathogenic variant or in trans with a benign variant was available.
BP3	Not assessed	Not assessed: the reading frame and genomic location could not be resolved, so repeat-region context could not be evaluated.
BP4	Not assessed	Not assessed: no computational prediction of any kind was available to support a benign effect.
BP5	Not assessed	Not assessed: no evidence of an alternative molecular diagnosis explaining a reported phenotype was available.	generic_acmg_combination_rules
BP6	Not assessed	Not assessed: no ClinVar expert-panel benign or likely-benign assertion for this exact variant was available.	generic_acmg_combination_rules
BP7	N/A	Not applicable: BP7 applies only to synonymous variants, and this is a 2-bp coding deletion.

Disclaimer: The content and results provided by LYFE Sciences are for research and educational purposes only and must not be used as a substitute for professional medical judgment, diagnosis, or treatment. Always consult a qualified healthcare professional before making any clinical decisions.