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HGVS - variant not annotated with 3' rule #562

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Suzie-D opened this issue Sep 12, 2024 · 0 comments
Open

HGVS - variant not annotated with 3' rule #562

Suzie-D opened this issue Sep 12, 2024 · 0 comments

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@Suzie-D
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Suzie-D commented Sep 12, 2024

Variant is not annotated following 3' rule.

SnpEff version: 5.2 (also present in 5.0)
Genome version: hg19

If follow HGVS and nomenclature of the variant in ClinVar would be: NM_000314.8(PTEN):c.802-5_802-3del, but is annotated as c.802-17_802-15delTTT by SNPEff.

chr10 89720633 . CTTT C

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