ClinVar

NM_000546.6(TP53):c.376-2A>T

Gene:

TP53:tumor protein p53 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.1

Genomic location:

• Chr17: 7675238 (on Assembly GRCh38)
• Chr17: 7578556 (on Assembly GRCh37)

Preferred name:

NM_000546.6(TP53):c.376-2A>T

HGVS:

• NC_000017.11:g.7675238T>A
• NG_017013.2:g.17313A>T
• NM_000546.6:c.376-2A>TMANE SELECT
• NM_001126112.3:c.376-2A>T
• NM_001126113.3:c.376-2A>T
• NM_001126114.3:c.376-2A>T
• NM_001126115.2:c.-23A>T
• NM_001126116.2:c.-23A>T
• NM_001126117.2:c.-23A>T
• NM_001126118.2:c.259-2A>T
• NM_001276695.3:c.259-2A>T
• NM_001276696.3:c.259-2A>T
• NM_001276697.3:c.-104A>T
• NM_001276698.3:c.-104A>T
• NM_001276699.3:c.-104A>T
• NM_001276760.3:c.259-2A>T
• NM_001276761.3:c.259-2A>T
• NM_001407262.1:c.376-2A>T
• NM_001407263.1:c.259-2A>T
• NM_001407264.1:c.376-2A>T
• NM_001407265.1:c.259-2A>T
• NM_001407266.1:c.376-2A>T
• NM_001407267.1:c.259-2A>T
• NM_001407268.1:c.376-2A>T
• NM_001407269.1:c.259-2A>T
• NM_001407270.1:c.376-2A>T
• NM_001407271.1:c.259-2A>T
• LRG_321t1:c.376-2A>T
• LRG_321t5:c.-23A>T
• LRG_321t6:c.-23A>T
• LRG_321t7:c.-23A>T
• LRG_321:g.17313A>T
• NC_000017.10:g.7578556T>A
• NM_000546.4:c.376-2A>T
• NM_000546.5:c.376-2A>T
• NM_001126115.1:c.-23A>T
• NM_001126116.1:c.-23A>T
• NM_001126117.1:c.-23A>T

This HGVS expression did not pass validation

Links:

dbSNP: rs786202799

NCBI 1000 Genomes Browser:

rs786202799

Molecular consequence:

• NM_001126115.2:c.-23A>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001126116.2:c.-23A>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001126117.2:c.-23A>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001276697.3:c.-104A>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001276698.3:c.-104A>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001276699.3:c.-104A>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_000546.6:c.376-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001126112.3:c.376-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001126113.3:c.376-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001126114.3:c.376-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001126118.2:c.259-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001276695.3:c.259-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001276696.3:c.259-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001276760.3:c.259-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001276761.3:c.259-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001407262.1:c.376-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001407263.1:c.259-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001407264.1:c.376-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001407265.1:c.259-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001407266.1:c.376-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001407267.1:c.259-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001407268.1:c.376-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001407269.1:c.259-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001407270.1:c.376-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001407271.1:c.259-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]

Functional consequence:

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

• Intron inclusion between exons 4 & 5, or skiping beginning of exon 5, based on review of RNA-seq in KYSE-520 cancer cell line which has TP53 NM_000546.5:c.376-2A>T variant.