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NM_005359.6:c.454+23C>T
p.? · SMAD4
ACMG/AMP
0%
complete
Final classification
In progress — classification not generated yet.
SMAD4
c.454+23C>T
p.?
· exon NC_000018.10
Gene context

In progress — evidence not uploaded yet.

This variant

In progress — evidence not uploaded yet.

Transcript
NM_005359.6
HGVS · transcript:coding
NM_005359.6:c.454+23C>T
GRCh38
chr18:51049347 C>T
GRCh37
chr18:48575717 C>T
In progress — classification not generated yet.
Classification rationale
In progress — classification not generated yet.

No rationale recorded.

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.
Gene diagram · NM_005359.6 · variants mapped to exon structure
SMAD4 NM_005359.6
Fetching transcript structure from UCSC…
Applied criteria · 0 applied · 28 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 · 28 not assessed
Pathogenic
PVS1
PS1
PS2
PS3
PS4
PM1
PM2
PM3
PM4
PM5
PM6
PP1
PP2
PP3
PP4
PP5
Benign
BA1
BS1
BS2
BS3
BS4
BP1
BP2
BP3
BP4
BP5
BP6
BP7
Research & evidence
Population frequency
v4.1
In progress — evidence not uploaded yet.
v2.1
In progress — evidence not uploaded yet.
🇨🇦 CA
In progress — evidence not uploaded yet.
Allele frequency by ancestry
three datasets · side by side
gnomAD v4.1
Absent · 0 / ?
0 hom
Not observed in any ancestry group.
gnomAD v2.1
Absent · 0 / ?
0 hom
Not observed in any ancestry group.
gnomAD Canada 🇨🇦
Absent · 0 / ?
0 hom
Not observed in any ancestry group.
gnomAD 🇨🇦 ↗
ClinVar
In progress — evidence not uploaded yet.
In silico
In progress — evidence not uploaded yet.
Functional In progress — classification not generated yet.
In progress — evidence not uploaded yet.
Somatic evidence
COSMIC
In progress — evidence not uploaded yet.
Hotspots
In progress — evidence not uploaded yet.
Sources & reference links

No sources recorded.