Starting
Initialising…
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Final classification
VUS
c.290A>T

No ACMG/AMP criteria could be met or ruled out for NM_000077.5:c.290A>T due to a critical normalization failure during case preparation: VariantValidator was unavailable and the gene, genomic coordinates, protein consequence, and all downstream evidence sources (gnomAD v2.1/v4.1, ClinVar, REVEL, BayesDel, SpliceAI, COSMIC, OncoKB, Hotspots, literature) could not be resolved. The variant cannot be classified and requires complete re-analysis when normalization services are available.

Gene
N/A
Transcript
N/A
HGVS · transcript:coding
NM_000077.5:c.290A>T
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.290A>T

No ACMG/AMP criteria could be met or ruled out for NM_000077.5:c.290A>T due to a critical normalization failure during case preparation: VariantValidator was unavailable and the gene, genomic coordinates, protein consequence, and all downstream evidence sources (gnomAD v2.1/v4.1, ClinVar, REVEL, BayesDel, SpliceAI, COSMIC, OncoKB, Hotspots, literature) could not be resolved. The variant cannot be classified and requires complete re-analysis when normalization services are available.

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
      Population frequency
      “
      This variant is absent from gnomAD v4.1.
      “
      This variant is absent from gnomAD v2.1.
      “
      This variant is absent from gnomAD-Canada.
      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.