SF3B1

None · ·

GRCh37: None · GRCh38: None

Gene: None Transcript:

Final call

VUS

Variant details

Gene

None

Transcript

Protein

gnomAD AF

ClinVar

None

OncoKB

None

Classification rationale

Interpretation summary

Generated evidence synthesis

A specific SF3B1 sequence change was not resolved, so this case could not be linked to variant-specific somatic observations or germline disease database entries.

Population evidence could not be assessed because no genomic coordinates or allele frequency data were available for comparison with ACMG/AMP frequency thresholds.

No variant-specific functional studies were identified, and generic PVS1 could not be applied because both the exact variant consequence and gene-level loss-of-function eligibility remained unresolved.

In silico evidence could not be assessed because no resolvable variant was available for SpliceAI, REVEL, BayesDel, or same-residue PM5 comparison.

Final determination: Generic ACMG/AMP 2015 fallback rules do not meet benign, likely benign, likely pathogenic, or pathogenic combination thresholds, so the variant is classified as Variant of Uncertain Significance.

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	A specific sequence change, variant class, and transcript consequence were not resolved, and germline loss-of-function eligibility for this gene was not established. Available evidence therefore does not support applying generic PVS1 at this time.	pvs1_gene_context pvs1_variant_assessment pvs1_generic_framework
PS1	Not assessed	No specific nucleotide change or protein consequence was resolved, so it was not possible to determine whether this variant creates the same amino acid change as a previously established pathogenic variant.
PS2	Not assessed	No de novo data were identified for a specific variant, and no family-based confirmation could be evaluated.
PS3	Not assessed	No variant-specific functional studies were identified because a specific sequence change was not resolved and no relevant PMID-backed functional literature was retrieved.
PS4	Not assessed	No variant-specific case enrichment or case-control data could be evaluated because a specific variant was not resolved.
PM1	Not assessed	No amino acid position or protein domain could be assigned, so it was not possible to determine whether this variant lies in a critical region or mutational hot spot without benign variation.
PM2	Not assessed	No genomic coordinates were resolved, so no gnomAD population frequency was available. The PM2 threshold of less than 0.1% could therefore not be assessed.
PM3	Not assessed	No phase or trans observations with a pathogenic variant were identified, and no specific variant was available for recessive-case review.
PM4	Not assessed	No in-frame protein length change was established because the variant class and protein consequence were not resolved.
PM5	Not assessed	Classic same-residue PM5 review could not be performed because no missense residue context was resolved, and available comparator harvesting did not confirm safe use of PM5 logic for this case.	pm5_candidates
PM6	Not assessed	No assumed de novo evidence was identified for a specific variant, so PM6 could not be evaluated.
PP1	Not assessed	No segregation data were identified for a specific variant, so cosegregation with disease could not be assessed.
PP2	Not assessed	No resolved variant class was available, so it was not possible to determine whether this is a missense variant in a gene with low benign missense variation and a common pathogenic missense mechanism.
PP3	Not assessed	No computational predictor results were available because no specific variant coordinates or consequence were resolved. SpliceAI, REVEL, BayesDel, and HCI prior could not be assessed for this case.
PP4	Not assessed	No phenotype-specific or molecularly specific disease presentation data were provided for a resolved variant, so PP4 could not be assessed.
PP5	Not assessed	No resolved variant was available for review of reputable-source pathogenic assertions, and this criterion is not used without variant-specific supporting evidence.
BA1	Not assessed	No gnomAD allele frequency was available because no genomic coordinates were resolved. The BA1 threshold of greater than 1% could therefore not be assessed.
BS1	Not assessed	No gnomAD allele frequency was available because no genomic coordinates were resolved. The BS1 threshold of greater than 0.3% could therefore not be assessed.
BS2	Not assessed	No specific variant was resolved, so observation in healthy adult individuals could not be evaluated.
BS3	Not assessed	No well-established functional studies showing a benign effect were identified because a specific variant was not resolved and no relevant PMID-backed functional literature was retrieved.
BS4	Not assessed	No family segregation data were identified for a specific variant, so lack of segregation with disease could not be assessed.
BP1	Not assessed	No resolved variant class was available, so it could not be determined whether this is a missense change in a gene where truncating variants are the predominant established disease mechanism.
BP2	Not assessed	No phase data were identified, so it was not possible to determine whether this variant is observed in trans with a pathogenic variant for a dominant disorder or in cis for any disorder.
BP3	Not assessed	No in-frame deletion or insertion within a repetitive region without known function was established because the variant class and location were not resolved.
BP4	Not assessed	No computational predictor results were available because no specific variant coordinates or consequence were resolved. SpliceAI, REVEL, BayesDel, and HCI prior could not be used to support a benign interpretation.
BP5	Not assessed	No alternate molecular explanation or resolved variant-specific clinical context was provided, so BP5 could not be assessed.
BP6	Not assessed	No resolved variant was available for review of reputable-source benign assertions, and this criterion is not used without variant-specific supporting evidence.
BP7	Not assessed	No synonymous or intronic variant context was resolved, and no splice prediction data were available, so BP7 could not be assessed.

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.