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Missing allele freq and clinvar annotations for variant on MT genes #1115

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tonydisera opened this issue Nov 5, 2024 · 1 comment
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@tonydisera
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tonydisera commented Nov 5, 2024

It looks like gnomAD doesn't have allele frequencies for variants in mitochondrial genes. Look into annotating from Allele Freq Aggregator ALPHA.

@tonydisera
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From Ralph R.

...it looks like the gnomAD data is missing, it's not a rare variant (12% of the population in gnomAD) but is shown with gnom AD 0.00 values and no link although the data is available here:
https://gnomad.broadinstitute.org/variant/M-13708-G-A?dataset=gnomad_r4

mitochondrial data is just not available on gnomAD for older versions, but gnomAD 4.1 lists it.

there's also a ClinVar entry for it that doesn't show up in gene iobio:
https://www.ncbi.nlm.nih.gov/clinvar/variation/9696/

@tonydisera tonydisera changed the title Provide population allele frequencies for variant on MT genes Missing allele freq and clinvar annotations for variant on MT genes Dec 5, 2024
@tonydisera tonydisera added this to the 4.11.4 milestone Dec 5, 2024
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