BA1 Exception List Nomination Form
BA1 criterion is widely implemented as an exclusionary filter, such that if a variant met that criterion, it could be considered as benign, without the need for assessing other evidence for or against pathogenicity.

However, there are variants in continental populations at a frequency greater than 0.05 that are potentially pathogenic for a Mendelian disorder. Recognizing that there exceptions to the BA1 criterion, ClinGen's Sequence Variant Interpretation Working Group has proposed an updated definition of BA1: "Allele frequency is >0.05 in any general continental population dataset of at least 2,000 alleles for a gene without a gene- or variant-specific recommendation."

The SVI working group has curated a set of variants with >0.05 frequency from the Exome Aggregation Consortium (ExAC) that should be exempted from the BA1 criterion: https://www.clinicalgenome.org/site/assets/files/8490/ba1_exception_list_07_30_2018.pdf

Please complete the information below to nominate a variant with plausible evidence of pathogenicity and an allele frequency >0.05 in any general continental population dataset of at least 2,000 alleles.

Email address *
Please provide your name *
Your answer
Please provide your affiliation *
Your answer
Provide a hyperlink to the variant in a population database. *
For example, HFE c.845G>A (p.Cys282Tyr) variant: http://exac.broadinstitute.org/variant/6-26093141-G-A
Your answer
Provide a hyperlink to the variant in ClinVar *
For example, HFE c.845G>A (p.Cys282Tyr) variant: https://www.ncbi.nlm.nih.gov/clinvar/variation/9/
Your answer
Provide evidence for variant to be excluded from BA1 filtration *
Free text. Please provide ACMG/AMP criteria applied and any PMIDs
Your answer
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