ClinVar

NM_000465.4(BARD1):c.216-12A>T

Gene:

BARD1:BRCA1 associated RING domain 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q35

Genomic location:

• Chr2: 214792457 (on Assembly GRCh38)
• Chr2: 215657181 (on Assembly GRCh37)

Preferred name:

NM_000465.4(BARD1):c.216-12A>T

HGVS:

• NC_000002.12:g.214792457T>A
• NG_012047.3:g.22255A>T
• NM_000465.4:c.216-12A>TMANE SELECT
• NM_001282543.2:c.159-12A>T
• NM_001282545.2:c.215+4604A>T
• NM_001282548.2:c.158+16955A>T
• NM_001282549.2:c.216-12A>T
• LRG_297t1:c.216-12A>T
• LRG_297:g.22255A>T
• NC_000002.11:g.215657181T>A
• NG_012047.2:g.22248A>T

This HGVS expression did not pass validation

Links:

dbSNP: rs199846428

NCBI 1000 Genomes Browser:

rs199846428

Molecular consequence:

• NM_000465.4:c.216-12A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001282543.2:c.159-12A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001282545.2:c.215+4604A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001282548.2:c.158+16955A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001282549.2:c.216-12A>T - intron variant - [Sequence Ontology: SO:0001627]