ClinVar

NM_000465.4(BARD1):c.334C>T (p.Arg112Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2q35

Genomic location:

• Chr2: 214792327 (on Assembly GRCh38)
• Chr2: 215657051 (on Assembly GRCh37)

Preferred name:

NM_000465.4(BARD1):c.334C>T (p.Arg112Ter)

HGVS:

• NC_000002.12:g.214792327G>A
• NG_012047.3:g.22385C>T
• NM_000465.4:c.334C>TMANE SELECT
• NM_001282543.2:c.277C>T
• NM_001282545.2:c.215+4734C>T
• NM_001282548.2:c.158+17085C>T
• NM_001282549.2:c.334C>T
• NP_000456.2:p.Arg112Ter
• NP_001269472.1:p.Arg93Ter
• NP_001269478.1:p.Arg112Ter
• LRG_297t1:c.334C>T
• LRG_297:g.22385C>T
• LRG_297p1:p.Arg112Ter
• NC_000002.11:g.215657051G>A
• NG_012047.2:g.22378C>T
• NM_000465.2:c.334C>T
• NM_000465.3:c.334C>T
• NR_104216.2:n.448C>T
• p.R112*

This HGVS expression did not pass validation

Protein change:

R112*

Links:

dbSNP: rs758972589

NCBI 1000 Genomes Browser:

rs758972589

Molecular consequence:

• NM_001282545.2:c.215+4734C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001282548.2:c.158+17085C>T - intron variant - [Sequence Ontology: SO:0001627]
• NR_104216.2:n.448C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_000465.4:c.334C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001282543.2:c.277C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001282549.2:c.334C>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

1