clingen-data-model / clinvar-ingest-reports

ClinGen generates several google sheet based reports from the ClinVar ingested data that originates from the Broad BigQuery data.
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Confirm Out of Date Alerts are working correctly #105

Closed dazzariti closed 4 months ago

dazzariti commented 4 months ago

Question from Jessica Hatton about the DICER1 VCEP Variant Tracker and how out of date variants are calculated, see examples below https://docs.google.com/spreadsheets/d/125xxFPtlFeBaYpRDWb4odgGIR7_cBHmpsB33cVnc4Yg/edit?usp=sharing

Thanks for clarifying.  So, if calculating based on “Date Last Evaluated,” it looks like DICER1 has the following out-of-date variants:

 

Name Germline classification Germline date last evaluated
NM_177438.3(DICER1):c.4748T>G (p.Leu1583Arg) Likely pathogenic 17-May-22
NM_177438.3(DICER1):c.5563C>T (p.Arg1855Ter) Uncertain significance 18-May-22
NM_177438.3(DICER1):c.5465A>T (p.Asp1822Val) Likely pathogenic 18-May-22
NM_177438.3(DICER1):c.5138A>T (p.Asp1713Val) Likely pathogenic 18-May-22
NM_177438.3(DICER1):c.5107C>T (p.Arg1703Cys) Uncertain significance 18-May-22
NM_177438.3(DICER1):c.5096-12G>A Likely pathogenic 18-May-22
NM_177438.3(DICER1):c.4024C>T (p.Arg1342Cys) Uncertain significance 18-May-22
NM_177438.3(DICER1):c.2642T>C (p.Leu881Pro) Likely pathogenic 18-May-22
NM_177438.3(DICER1):c.1719AGA[1] (p.Glu574del) Uncertain significance 18-May-22
NM_177438.3(DICER1):c.238G>T (p.Glu80Ter) Likely pathogenic 18-May-22
NM_177438.3(DICER1):c.2T>C (p.Met1Thr) Uncertain significance 18-May-22

 

However, the DICER1 variant tracker shows “0” out of date variants. . .  Perhaps I’m refreshing it incorrectly?  (Screenshot below)

RyanFWebb commented 4 months ago

It looks like the automatic refresh that pulls in data in the BigQuery connected sheet had been turned off. It's back on now and everything looks like it should be up to date. The alerts tab and home sheet's pivot table are now showing out of date variants.

Ready to close pending your/Jessica's review.