bihealth / reev

REEV: Explanation and Evaluation of Variants
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ClinVar entry missing for variants #124

Closed holtgrewe closed 11 months ago

holtgrewe commented 11 months ago

Describe the bug ClinVar information is missing for variants.

To Reproduce Steps to reproduce the behavior:

  1. Go to variant https://reev.cubi.bihealth.org/variant/chr2:219747090:C:A/grch37
  2. Scroll down to clinvar box
  3. See missing data

Expected behavior REEV should redirect to VCV000004461.40 https://www.ncbi.nlm.nih.gov/clinvar/variation/4461

Screenshots image image

Additional context genomic variant [hg19/GRCh37] gene RefSeq transcript variant effect variant class inheritance ACMG-class (criteria) ClinVar ID
chr2:219747090:C:A WNT10A NM_025216.3 c.321C>A;p.(Cys107*) nonsense maternal class V - pathogenic (PVS1-very strong, PM2-supporting, PP4-supporting, PP5-strong) VCV000004461.40
holtgrewe commented 11 months ago

chr4:113568536:G:GA

image

holtgrewe commented 11 months ago

chr4:113568635:ATCAAAAGTAAAGAAAATTAT:A image

holtgrewe commented 11 months ago

Hm, for the first one we have the following JSON returned by the annonars service:

{
    "clinvar": {
        "release": "GRCh37",
        "chromosome": "2",
        "start": 219747090,
        "stop": 219747090,
        "reference": "C",
        "alternative": "A",
        "rcv": "RCV002247247",
        "clinical_significance": 0,
        "review_status": 3
    }
}

For the second we have:

{
    "clinvar": {
        "release": "GRCh37",
        "chromosome": "4",
        "start": 113568536,
        "stop": 113568537,
        "reference": "G",
        "alternative": "GA",
        "rcv": "RCV001262130",
        "clinical_significance": 0,
        "review_status": 4
    }
}

The third is indeed missing.

holtgrewe commented 11 months ago

@gromdimon please look into the issue as the first two variants should appear

holtgrewe commented 11 months ago

Actually, the last variant is chr4:113568636:ATCAAAAGTAAAGAAAATTAT:A so the position was shifted in my comment.

So the URL for this in reev is:

https://reev.cubi.bihealth.org/internal/proxy/annonars/annos/variant?genome_release=grch37&chromosome=4&pos=113568636&reference=ATCAAAAGTAAAGAAAATTAT&alternative=A

and the result is

{
    "clinvar": {
        "release": "GRCh37",
        "chromosome": "4",
        "start": 113568636,
        "stop": 113568655,
        "reference": "ATCAAAAGTAAAGAAAATTAT",
        "alternative": "A",
        "rcv": "RCV002287861",
        "clinical_significance": 0,
        "review_status": 3
    }
}
holtgrewe commented 11 months ago

@gromdimon I think this is only an issue in our Vue front-end code and one fix should fix all issues.