ClinVar

NM_000077.5(CDKN2A):c.457+1G>A

Gene:

CDKN2A:cyclin dependent kinase inhibitor 2A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9p21.3

Genomic location:

• Chr9: 21970901 (on Assembly GRCh38)
• Chr9: 21970900 (on Assembly GRCh37)

Preferred name:

NM_000077.5(CDKN2A):c.457+1G>A

HGVS:

• NC_000009.12:g.21970901C>T
• NG_007485.1:g.28591G>A
• NM_000077.5:c.457+1G>AMANE SELECT
• NM_001195132.2:c.457+1G>A
• NM_001363763.2:c.304+1G>A
• NM_058195.4:c.*101+1G>A
• NM_058197.5:c.*380+1G>A
• LRG_11t1:c.457+1G>A
• LRG_11:g.28591G>A
• NC_000009.11:g.21970900C>T
• NM_000077.4:c.457+1G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs1587330312

NCBI 1000 Genomes Browser:

rs1587330312

Molecular consequence:

• NM_000077.5:c.457+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001195132.2:c.457+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001363763.2:c.304+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_058195.4:c.*101+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_058197.5:c.*380+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Functional consequence:

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

• Intron inclusion between exons 2 & 3, or skiping end of exon 2, based on review of RNA-seq in KNS-62 cancer cell line which has CDKN2A NM_000077.4:c.457+1G>A variant.