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

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.

Gene
N/A
Transcript
N/A
HGVS · transcript:coding
NM_001032221.6:c.166G>C
Consequence
N/A
GRCh38
N/A
GRCh37
N/A
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 met · select any tile
Met
Not met
Not assessed
N/A
Strength very strong supporting
Pathogenic evidence
PVS
PS
PM
PP
Benign evidence
BA
BS
BP
—
—
—
Rationale
Select a criterion.
Sources
Evidence used
    Gaps remaining
      Rule
      —
      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.