0%
c.166G>CUncertain significance
Print report
Variant interpretation report

c.166G>C

NM_001032221.6:c.166G>C View identifiers
Classification
Uncertain significance

Variant description:

No variant summary was recorded for this case.

Five-step scale from benign to pathogenic. This variant is uncertain. Select a step to read what it means.

Uncertain.The recorded classification is uncertain significance.

In plain language

Gene-level background from the recorded interpretation.

About the gene

No gene-level summary was recorded for this case.

LYFE Sciences is an AI system, and it can make mistakes. Criteria may be applied incorrectly, sources may be misread, and a confident-looking classification can still be wrong. Double-check every criterion and its underlying evidence before relying on any call.
01The reasoning

How it was classified

The recorded framework is Not recorded. The criteria and strengths shown below come from the saved assessment; this page does not recalculate the classification.

Recorded applied criteria

The applied criteria and their strengths are shown as assessed under the stated framework.

Pathogenic evidence criteria: 0 Benign evidence criteria: 0
Pathogenic criteria applied · 0

No pathogenic criterion marked as applied in the recorded assessment.

Benign criteria applied · 0

No benign criterion marked as applied in the recorded assessment.

Recorded classification: Uncertain significance

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.

02The sources

Evidence at a glance

Evidence summaries and captured source records, where available. Missing entries should not be interpreted as negative findings.

No screenshot for this evidence
Population frequency
Not recorded

gnomAD v4.1 allele counts were not recorded for this variant.

No listed criterion applied gnomAD-Canada ↗
No screenshot for this evidence
Computational predictions
Not recorded

No SpliceAI or REVEL score is recorded in the fields used for this tile.

No listed criterion applied
No screenshot for this evidence
ClinVar submissions
Not recorded

A ClinVar laboratory submission summary was not recorded.

Context only
No screenshot for this evidence
Functional evidence
Not recorded

No standalone functional evidence summary is recorded in evidence_summary.functional.

No listed criterion applied
No screenshot for this evidence
Somatic evidence
Not assessed

No COSMIC evidence statement is recorded in this case.

Context only
For specialists

Technical detail

ACMG/AMP criteria under Not recorded, with the data and sources behind each one.

27 criteria with recorded statuses: 0 met · 0 not met · 25 not assessed · 2 not applicable. Open any row for the full reasoning, the rule and the evidence behind it.

Pathogenic
PVS1PS1PS2PS3PS4PM1PM2PM5PM6PP1PP2PP3PP4PP5PS5
Benign
BA1BS1BS2BS3BS4BP1BP2BP3BP4BP5BP6BP7
Met Not met Not assessed Not applicable

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.

Not assessed · 25 · no assessment recorded

PS1 No protein-level consequence could be determined, precluding identification of a same-amino-acid-change comparator with a prior pathogenic classification. Details ▾Hide ▴
Still missing
  • Gene and protein consequence unknown due to failed variant normalization (reference mismatch at NM_001032221.6 position 166).
PS2 No de novo data available; variant could not be identified in ClinVar or literature sources. Details ▾Hide ▴
Still missing
  • No publications
  • ClinVar submissions
  • or segregation data available for this variant.
PS3 No functional studies identified; variant not found in any literature or database source. Details ▾Hide ▴
Still missing
  • No publications
  • COSMIC
  • or OncoKB entries retrieved
  • variant could not be normalized.
PS4 No case-control or prevalence data available; variant absent from ClinVar and gnomAD queries could not be completed due to failed normalization. Details ▾Hide ▴
Still missing
  • Gene unknown
  • gnomAD v2.1 and v4.1 queries returned null
  • gnomAD-Canada returned AC=0
  • AN=0 (no population coverage).
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. Details ▾Hide ▴
Still missing
  • Gene unknown
  • hotspot screen returned exact_variant_listed='no' and residue_significant=false
  • no domain annotations available.
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. Details ▾Hide ▴
Evidence considered
  • gnomAD-Canada v1.0: AC=0
  • AN=0 — no population coverage
  • cannot distinguish absence from missing data.
Still missing
  • Gene unknown
  • gnomAD queries require valid gene/coordinate mapping which could not be obtained.
PM5 No same-residue comparator variants could be identified; protein-level consequence is unknown and PM5 candidate harvesting was not feasible. Details ▾Hide ▴
Still missing
  • Residue context unknown
  • pm5_candidates found=false
  • classic PM5 search not eligible due to absent protein consequence.
PM6 No de novo observations available; variant absent from ClinVar and literature. Details ▾Hide ▴
Still missing
  • No ClinVar submissions
  • no publications
  • no segregation data.
PP1 No co-segregation data available; no family studies identified. Details ▾Hide ▴
Still missing
  • No publications or family-based studies retrieved.
PP2 Cannot assess missense constraint; HCI Prior scores are unavailable (gene unknown, no coordinates) and the gene's benign missense rate cannot be evaluated. Details ▾Hide ▴
Still missing
  • Gene unknown
  • HCI Prior query skipped
  • no coordinate mapping available for missense constraint analysis.
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. Details ▾Hide ▴
Still missing
  • Gene unknown
  • REVEL
  • BayesDel
  • and SpliceAI all unavailable due to missing genomic coordinates.
PP4 No patient phenotype or family history data available for this case. Details ▾Hide ▴
Still missing
  • No phenotype information provided
  • gene unknown.
PP5 No reputable source has reported this variant; ClinVar classification is absent and no publications mention it. Details ▾Hide ▴
Still missing
  • No ClinVar entries
  • no publications
  • no curated database reports.
BA1 Population allele frequency could not be determined; gnomAD queries returned null due to failed variant normalization. Details ▾Hide ▴
Still missing
  • Gene and genomic coordinates unknown
  • gnomAD data unavailable.
BS1 Population allele frequency could not be determined; gnomAD queries returned null due to failed variant normalization. Details ▾Hide ▴
Still missing
  • Gene and genomic coordinates unknown
  • gnomAD data unavailable.
BS2 No homozygous or hemizygous observations in controls could be assessed; variant absent from all databases. Details ▾Hide ▴
Still missing
  • No population data available.
BS3 No functional studies identified that demonstrate a benign effect; variant not found in any literature or database source. Details ▾Hide ▴
Still missing
  • No publications or functional data available.
BS4 No non-segregation data available; no family studies identified. Details ▾Hide ▴
Still missing
  • No publications or segregation data.
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. Details ▾Hide ▴
Still missing
  • Gene unknown
  • no variant class information available.
BP2 No data on observation in trans with a pathogenic variant; variant not found in any database or literature source. Details ▾Hide ▴
Still missing
  • No ClinVar
  • gnomAD
  • or literature data available.
BP4 No in silico prediction scores available to support a benign interpretation; REVEL, BayesDel, and SpliceAI are all unavailable due to missing genomic coordinates. Details ▾Hide ▴
Still missing
  • No in silico data available
  • REVEL and BayesDel skipped
  • SpliceAI null.
BP5 No alternate molecular basis for disease has been identified in this case; variant not found in any database. Details ▾Hide ▴
Still missing
  • No case-level phenotype or genetic data available.
BP6 No reputable source has reported this variant; ClinVar classification is absent. Details ▾Hide ▴
Still missing
  • No ClinVar entries or curated database reports.
BP7 Cannot determine whether this is a synonymous variant with no predicted splice effect because the variant class and SpliceAI scores are unavailable. Details ▾Hide ▴
Still missing
  • Variant class unknown
  • SpliceAI delta scores null
  • cannot confirm synonymous status or exclude splice effect.
PS5 No reputable source (ClinVar expert panel, clinical laboratory, curated database) has reported this variant as pathogenic. Details ▾Hide ▴
Still missing
  • No ClinVar entries
  • no publications
  • no curated database reports for this variant.
Not applicable · 2· recorded as not applicable Show reasons ▾Hide reasons ▴
PVS1 N/AVariant is a substitution (c.166G>C) not falling into any null-variant bucket (nonsense, frameshift, canonical splice, initiation codon, or exon deletion). PVS1 is reserved for null variants in genes where loss-of-function is an established disease mechanism; gene-level LOF eligibility also could not be established. Details ▾Hide ▴
Evidence considered
  • Variant class could not be determined
  • variant_bucket is 'other' and apply_generic_pvs1_framework is false per pvs1_variant_assessment.
Still missing
  • Gene not identified
  • variant could not be normalized due to reference mismatch.
Sources
pvs1_generic_framework ↗
BP3 N/ABP3 applies to in-frame deletions or insertions in repetitive regions without a known function; this variant is a substitution. Details ▾Hide ▴

No further detail was recorded.

Identifiers

Coding (HGVS c.)
NM_001032221.6:c.166G>C
gnomAD v4.1 Allele count data not recorded
gnomAD v2.1 Allele count data not recorded
gnomAD-Canada v1.0 0 / 0 alleles AF 0 · 0 homozygotes · FAF 0

By genetic ancestry

gnomAD-Canada

AF 0 · 0 / 0 alleles · 0 hom

Statements

No population statements were recorded.

Open the gnomAD-Canada detail page →

Other predictors

REVEL
Not available
BayesDel
Not available

How the predictions were used

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. Details ▾Hide ▴
Still missing
  • Gene unknown
  • REVEL
  • BayesDel
  • and SpliceAI all unavailable due to missing genomic coordinates.
BP4 No in silico prediction scores available to support a benign interpretation; REVEL, BayesDel, and SpliceAI are all unavailable due to missing genomic coordinates. Details ▾Hide ▴
Still missing
  • No in silico data available
  • REVEL and BayesDel skipped
  • SpliceAI null.
BP7 Cannot determine whether this is a synonymous variant with no predicted splice effect because the variant class and SpliceAI scores are unavailable. Details ▾Hide ▴
Still missing
  • Variant class unknown
  • SpliceAI delta scores null
  • cannot confirm synonymous status or exclude splice effect.

0 paper records listed. No publication is explicitly linked to an applied criterion in the recorded metadata.