Analysis in progress
Initialising…
0%
complete
This report is still being assembled — sections appear as each stage finishes. It isn't final yet.
Final classification
VUS
c.166G>C
This variant

Variant NM_001032221.6:c.166G>C could not be validated: VariantValidator reports the reference nucleotide at NM_001032221.6 position 166 is A, not G. No gene, protein consequence, population frequency, ClinVar classification, or literature evidence could be obtained.

Transcript
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HGVS · transcript:coding
NM_001032221.6:c.166G>C
GRCh38
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GRCh37
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Basis gene-specific framework lacked a usable explicit final combination framework, so generic ACMG/AMP 2015 final-combination rules were applied as fallback; applied criteria: none; combination = no applied criteria, which maps to VUS. ▾
gene-specific framework lacked a usable explicit final combination framework, so generic ACMG/AMP 2015 final-combination rules were applied as fallback; applied criteria: none; combination = no applied criteria, which maps to VUS.
Classification rationale
VUS
c.166G>C

Variant NM_001032221.6:c.166G>C could not be validated: VariantValidator reports the reference nucleotide at NM_001032221.6 position 166 is A, not G. No gene, protein consequence, population frequency, ClinVar classification, or literature evidence could be obtained. No ACMG/AMP criteria could be met due to complete absence of evidence across all data sources. Classification is not possible with available data.

Applied criteria · 0 applied · 24 assessed
MetEvidence satisfies this criterion.
Not metEvaluated against available evidence; threshold not reached.
Not assessedApplies in principle, but no evidence was found to evaluate it.
N/ADoesn't apply to this variant type.
Applied · 0

No criteria were applied for this variant.

Assessed · not applied · 0 not met · 24 not assessed
Pathogenic
PS1 No protein-level consequence could be determined, precluding identification of a same-amino-acid-change comparator with a prior pathogenic classification.
PS2 No de novo data available; variant could not be identified in ClinVar or literature sources.
PS3 No functional studies identified; variant not found in any literature or database source.
PS4 No case-control or prevalence data available; variant absent from ClinVar and gnomAD queries could not be completed due to failed normalization.
PM1 Cannot assess whether the variant resides in a mutational hot spot or critical functional domain because the gene and protein domain architecture remain unknown.
PM2 Population frequency could not be determined; gnomAD v2.1 and v4.1 queries returned null, and gnomAD-Canada returned zero alleles observed (AC=0) with zero total alleles (AN=0), indicating no population coverage rather than true absence.
PM5 No same-residue comparator variants could be identified; protein-level consequence is unknown and PM5 candidate harvesting was not feasible.
PM6 No de novo observations available; variant absent from ClinVar and literature.
PP1 No co-segregation data available; no family studies identified.
PP2 Cannot assess missense constraint; HCI Prior scores are unavailable (gene unknown, no coordinates) and the gene's benign missense rate cannot be evaluated.
PP3 No in silico prediction scores available; REVEL and BayesDel queries were skipped (no SNV coordinates), SpliceAI delta scores are null, and no other computational evidence could be evaluated.
PP4 No patient phenotype or family history data available for this case.
PP5 No reputable source has reported this variant; ClinVar classification is absent and no publications mention it.
Benign
BA1 Population allele frequency could not be determined; gnomAD queries returned null due to failed variant normalization.
BS1 Population allele frequency could not be determined; gnomAD queries returned null due to failed variant normalization.
BS2 No homozygous or hemizygous observations in controls could be assessed; variant absent from all databases.
BS3 No functional studies identified that demonstrate a benign effect; variant not found in any literature or database source.
BS4 No non-segregation data available; no family studies identified.
BP1 Cannot assess whether a missense variant in this gene should be designated BP1 (observed with a known pathogenic truncating variant) because the gene is unknown.
BP2 No data on observation in trans with a pathogenic variant; variant not found in any database or literature source.
BP4 No in silico prediction scores available to support a benign interpretation; REVEL, BayesDel, and SpliceAI are all unavailable due to missing genomic coordinates.
BP5 No alternate molecular basis for disease has been identified in this case; variant not found in any database.
BP6 No reputable source has reported this variant; ClinVar classification is absent.
BP7 Cannot determine whether this is a synonymous variant with no predicted splice effect because the variant class and SpliceAI scores are unavailable.
N/A · 2 PVS1 · BP3
Research & evidence
Population frequency
v4.1
This variant is absent from gnomAD v4.1.
v2.1
This variant is absent from gnomAD v2.1.
🇨🇦 CA
This variant is absent from gnomAD-Canada.
Allele frequency by ancestry
three datasets · side by side
gnomAD Canada 🇨🇦
Absent · 0 / ?
0 hom
Not observed in any ancestry group.
gnomAD 🇨🇦 ↗
ClinVar No data
No ClinVar submissions were recorded for this variant.
In silico No data
No in-silico prediction was recorded for this variant.
Functional No data
No calibrated functional assay or RNA evidence was identified for this variant.
Somatic evidence
COSMIC
This variant has not previously been reported in somatic cancers (COSMIC).
Hotspots
This variant does not lie in a statistically significant cancer hotspot.
Sources & reference links

No sources recorded.