ClinVar

NM_000314.8(PTEN):c.1026+1G>C

Gene:

PTEN:phosphatase and tensin homolog [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q23.31

Genomic location:

• Chr10: 87961119 (on Assembly GRCh38)
• Chr10: 89720876 (on Assembly GRCh37)

Preferred name:

NM_000314.8(PTEN):c.1026+1G>C

HGVS:

• NC_000010.11:g.87961119G>C
• NG_007466.2:g.102681G>C
• NM_000314.8:c.1026+1G>CMANE SELECT
• NM_001304717.5:c.1546+1G>C
• NM_001304718.2:c.435+1G>C
• LRG_311t1:c.1026+1G>C
• LRG_311:g.102681G>C
• NC_000010.10:g.89720876G>C
• NM_000314.4:c.1026+1G>C
• NM_000314.6:c.1026+1G>C

This HGVS expression did not pass validation

Links:

dbSNP: rs786201041

NCBI 1000 Genomes Browser:

rs786201041

Molecular consequence:

• NM_000314.8:c.1026+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001304717.5:c.1546+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001304718.2:c.435+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]

Functional consequence:

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

• Intron inclusion between exons 8 & 9, and loss of exon 9 expression, based on review of RNA-seq in TCGA-EE-A2GU-06A tumor which has PTEN NM_000314.6:c.1026+1G>C variant