Suggested classification
VUS
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Suggested Classification VUS
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EVIDENCE

Aggregated from public databases using ACMG Guidelines

Population Data
PM2
Moderate
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pathogenic Moderate:
Extremely low frequency in gnomAD population databases see details
unmet:
BA1
BS1
BS2
see details
In-silico Predictions
BP4
Supporting
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benign Supporting:
For a missense or a splice region variant, computational prediction tools unanimously support a benign effect on the gene see details
Franklin uses the latest recommendations (2022) for PP3/BP4 rules Learn how
unmet:
PP3
see details
Effect on Protein
Criteria unmet
unmet:
PVS1
PS1
PM4
PM5
BP1
BP3
BP7
see details
Functional Data
Criteria unmet
unmet:
PM1
PP2
see details
Reputable Source Data
Criteria unmet
unmet:
PP5
BP6
see details
De Novo Data
Criteria unmet
unmet:
PS2
PM6
see details

ADD MORE EVIDENCE

ACMG Standards and Guidelines recommend 28 criteria for classifying variants' pathogenicity. Genoox classification engine ran 17 of them automatically. You can add more evidence in the categories below to confirm the classification or see how it’s impacted.

Functional Studies
PS3 BS3
ESC
Allelic Data
PM3 BP2
ESC
Segregation Data
PP1 BS4
ESC
Phenotype
PP4
ESC
Alternate Locus
BP5
ESC
Case Control Studies
PS4
ESC
Genoox does not provide treatment advice or diagnoses
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Assembly: GRCh37/hg19
ESC
ESC
Case Details
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Patient Information
Patient Information is missing
Variant Information
No information
No Phenotypes
Click the tag to disable the phenotype
No Phenotypes were added