ClinVar

NM_000314.8(PTEN):c.801+1G>T

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

10q23.31

Genomic location:

• Chr10: 87958020 (on Assembly GRCh38)
• Chr10: 89717777 (on Assembly GRCh37)

Preferred name:

NM_000314.8(PTEN):c.801+1G>T

HGVS:

• NC_000010.11:g.87958020G>T
• NG_007466.2:g.99582G>T
• NM_000314.8:c.801+1G>TMANE SELECT
• NM_001304717.5:c.1321+1G>T
• NM_001304718.2:c.210+1G>T
• LRG_311t1:c.801+1G>T
• LRG_311:g.99582G>T
• NC_000010.10:g.89717777G>T
• NC_000010.10:g.89717777G>T
• NM_000314.4:c.801+1G>T

This HGVS expression did not pass validation

Links:

dbSNP: rs786204873

NCBI 1000 Genomes Browser:

rs786204873

Molecular consequence:

• NM_000314.8:c.801+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001304717.5:c.1321+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001304718.2:c.210+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]

Functional consequence:

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

• Intron inclusion between exons 7 & 8, based on review of RNA-seq in TCGA-85-A50Z-01A tumor which has PTEN NM_000314.8:c.801+1G>T variant