ClinVar

NM_000551.4(VHL):c.464-2A>G

Genes:

LOC107303340:3p25 von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase Alu-mediated recombination region [Gene]
VHL:von Hippel-Lindau tumor suppressor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p25.3

Genomic location:

• Chr3: 10149785 (on Assembly GRCh38)
• Chr3: 10191469 (on Assembly GRCh37)

Preferred name:

NM_000551.4(VHL):c.464-2A>G

HGVS:

• NC_000003.12:g.10149785A>G
• NG_008212.3:g.13151A>G
• NG_046756.1:g.7547A>G
• NM_000551.4:c.464-2A>GMANE SELECT
• NM_001354723.2:c.*18-2A>G
• NM_198156.3:c.341-2A>G
• LRG_322t1:c.464-2A>G
• LRG_322:g.13151A>G
• NC_000003.11:g.10191469A>G
• NM_000551.3:c.464-2A>G

This HGVS expression did not pass validation

Links:

dbSNP: rs5030816

NCBI 1000 Genomes Browser:

rs5030816

Molecular consequence:

• NM_000551.4:c.464-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001354723.2:c.*18-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_198156.3:c.341-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]

Functional consequence:

sequence_variant_affecting_splicing [Sequence Ontology: SO:1000071] - Comment(s)

• Intron inclusion between exons 2 & 3, based on review of RNA-seq in TCGA-XK-AAIW-01A tumor which has VHL NM_000551.4:c.464-2A>G variant

Observations:

6