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Final classification
VUS
c.*25175G>A

The NM_001202543.1:c.*25175G>A variant could not be assigned to a validated gene, genomic coordinate, or protein consequence, so somatic cancer and germline disease database observations were not established.

Gene
N/A
Transcript
N/A
HGVS · transcript:coding
NM_001202543.1:c.*25175G>A
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.*25175G>A

The NM_001202543.1:c.*25175G>A variant could not be assigned to a validated gene, genomic coordinate, or protein consequence, so somatic cancer and germline disease database observations were not established. Population frequency could not be evaluated because a validated genomic representation was not available for gnomAD-based review. No published functional evidence establishing either a damaging or benign effect was identified, and gene-level loss-of-function context remained unresolved for PVS1 consideration.1 SpliceAI, REVEL, and BayesDel results were not available for this variant representation, so computational evidence could not support either PP3 or BP4.

1 pvs1_gene_contextpvs1_variant_assessment
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.
      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.