Variant · Deletion

VHL NM_000551.4(VHL):c.341-1583_464-1477del

CI-VAR-00170512Explore in graph →NM_000551.4:c.341-1583_464-1477delClinVar 997729

Curated evidence

Evidence by cancer (0 items)

Grouped by cancer context first, then therapy. The same variant can be sensitizing in one cancer and irrelevant in another — contexts are never merged. 50 items per page; a cancer group may continue on the next page.

Data not yet available

No curated evidence item references this variant yet.

ClinVar

Clinical significance (1)

ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.

clinvarCurated1 interpretation · review status and star rating as assigned by ClinVar.

Variation	Clinical significance	Review status	Stars	Conditions	Origin	Submitters	Last evaluated	Source
997729	Pathogenic	criteria provided, single submitter	1	Von Hippel-Lindau syndrome	germline	1	Jun 01, 2020	clinvar

Nomenclature

Record

Gene: VHL
Type: Deletion
HGVS c.: NM_000551.4:c.341-1583_464-1477del
Assembly: GRCh38
Position: chr3:10144930-10148310
Ref / Alt: TAAAAATGGTTAAAATGGTAAATGTTTGAGGCAGGTAGATCCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGGAACCCTGTCTCTGCTAAAAATACAAAAGTTAGCTGCATGTGGTGGCATGCGCCTGTTTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTGGCAGTGAGCCAAGATCACACCACTACACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCTAAATAATAAATAAAATGGTAACTTTTATGTATATTTTACCAAAATTTAAAAAATTACAAGTTTACATTTCTTAAAATTTCCCATCAAATCTGTAAGTAAATTTATGCCCCGAGGAACAAGTGCTATATTTATTCTAAGACAACCTCCTCCTTCCTTAAACAGAATCTTAGGGCTGGAGGATTGCTTCCTGCCCTCTTTTGTTTGTGATGTATGCATTTTGAAAATTCTGGGCCAGGCGCAGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATAAGATCAGGAGATTGAGACCATCCTGGCTAATACGGTGAAACCCTGTCTCTACTGAAAATAACAAAAAATTAGCCGGGCGTGGTGGCGGGCACCTGTGGTCCCAGCTATTTGGGAGGCTGTGGCAGGAGAATGGCATAAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTGCATCTCAAAAAAAAAAAAAAGAAAAAGAAAAGAAAATTCTGGTATAATTTACATACAGTAAAATGCACAGATCTTAGGGTTTGATGAGTTTTCTCTCGACATGTTTTTGCACTTCCTTGTTTTTGAGAAGCACTGATTTGAGAAGTCAGTGGCTTTTTCTCTTTAGTTTGCAGGGTTTGCTGTGATTTGTAATCACGTACTTGACCTAGGCTTCCCTTTTCCACCATGGTAGCAGAAAGGGCATGGGATTGAGAGCTTTAAGTACGCGCTCTTTGCTTACTGTCTTATACCTTGAGCATGTCACTTCTCTCAGACTTGTTTTCTCATCTGTAAATGGATCTGTTGTGAGGACTGACTGAGATAATGTTACTAGAAGGGCTTTGTATAATATTTAAGCAGAGTGAGAGGTAAGCTTTTTGTGTAGGTCAGGGGAAATGGAGAAAATAGGTGCCCTGACTCAGACCAGTCTGGCTCTTTTTTTTTTTTTTTTTGGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACGGCAAGCTCCACCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCTCGCCACCACACCTGGCTAATTTTTTTGTATTTTTAGTAGAGACGAGGTTTCACCACGTTAGCCAGGACGGTCTTGATCTCCTGACCTCATGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGGGCCACCGTGCCCAGCCACCGGTGTGGCTCTTTAACAACCTTTGCTTGTCCCGATAGGTCACCTTTGGCTCTTCAGAGATGCAGGGACACACGATGGGCTTCTGGTTAACCAAACTGAATTATTTGTGCCATCTCTCAATGTTGACGGACAGCCTATTTTTGCCAATATCACACTGCCAGGTACTGACGTTTTACTTTTTAAAAAGATAAGGTTGTTGTGGTAAGTACAGGATAGACCACTTGAAAAATTAAGCCCAGTTCTCAATTTTTGCCTGATGTCAGGCACGTTATCCAATCTTTTTGTATCCTATTCTCTACCATAAATAAAATGGAAGTGATGTATTTGTACGTTATGTGTTAAAGGTGTTATGGTGTCTCAAAAGCACTTTGGGCTCTTAAGAGACAAGCGAAATTAAAGTATCATATCATAGGTTAGTTTTGTAGAATTGTAGAATTACGAATGCCTTTTGTTTCCCTGGCCAAATTGTGCCCTGGAGTTCCAGGAGAACAATGTGTAGAGCATGAGATATTTTGGCTTATTTGTTGCTGACTTCTAATTTTTTTTATTTTTTTGAGACAGAATCTCGCTGTGTTAGCTAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGCCTACTGGGTTCCAGTGATTCTCTTGTCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGTGTGCCACCCACTCTGATAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCCATCTCCTGACCTCATGATCTGCCCGCCTACGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACAGCACCTGGCCTATGTATTTTCAATTTAACACAATCAAGCTCACAGTGCCAATCAGAGGTGTTTTTTTTTTTTTTATTTTTATTTTTAGAGAGTCTCACAGTGTCATCCAGGCTGGAGTGCAGTGGTGCGATTTCAGCTCACTGCAACCTCTGCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGGGTAGCTGGGGTTATAGGTGCCTGTCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGTCCAGCCTGTTTTTTTTTTTTTTTAAATCATTGAAGATTGGTATAATACTTCACTATTTGTTTGAAGCTCAAATGATTTTATCAGGGTAAACCCTAATAAACTGATGTTCCTGTGGGTAAAAAAAACCTCACTAAAGACCAGCAGTGTGTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGTGAGATCCTGTCTCAAAAAAAGAAAAAAAAAACTCAAAAACCCCCCAAATACATGGGTTTCATAGGATTCAAACTACTATGTGTGTATAGATCCTGTTTTAAGGAAGTAGATATATAAAAATGAGCATTGCTAAGTTAAATTTGGTAAATTTGCCTTATAGAATACCCTCGAGTACGTTTCCAGTGAGTGTAAAATAGGAATTGGGATACCCAATTCAGTTGTACTAGA → T