Variant · Splice

VHL Splice Region (c.340+5G>C)

CI-VAR-00004169Explore in graph →NP_000542.1:p.?NM_000551.3:c.340+5G>CClinVar 36901 CIViC 2104 rs61758376

Curated evidence

Evidence by cancer (13 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.

civicCuratedShowing 1–13 of 13 evidence items across 1 cancer context on this page · levels, directions and significance as curated at the source; each row links to its CIViC record.

Molecular profile	Therapy	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
Von Hippel-Lindau Disease13unmapped disease
VHL E70K (c.208G>A) AND VHL Splice Region (c.340+5G>C)	(predisposing)	Predisposing	C	Supports Predisposition	3	submitted	EID6868 Medical records of 26 patients with germline mutations of the VHL gene who had been diagnosed with VHL disease in Severance Hospital (Seoul, Republic of Korea) and Samsung Medical Center (Seoul, Repub… (full text at CIViC) PMID 25078357 · Hwang et al., 2014 · Open in CIViC	civic
VHL P86S (c.256C>T) AND VHL Splice Region (c.340+5G>C)	(predisposing)	Predisposing	C	Supports Predisposition	3	submitted	EID6740 Mutation detection and bioinformatics predictions in the VHL gene were performed to identify the errors in this family. A 42 year old Chinese male presented with cerebral hemangioblastoma, clear cell … (full text at CIViC) PMID 27057652 · Yuan et al., 2016 · Open in CIViC

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
36901	Benign/Likely benign	criteria provided, multiple submitters, no conflicts	2	Von Hippel-Lindau syndrome; Hereditary cancer-predisposing syndrome; Chuvash polycythemia; Tuberous sclerosis 2; Malignant lymphoma, large B-cell, diffuse; Ovarian serous cystadenocarcinoma; Gastric cancer; Thymoma; Cholangiocarcinoma; Acute myeloid leukemia; Cervical cancer; Ovarian cancer; Uterine corpus endometrial carcinoma; Familial pancreatic carcinoma