ClinVar

NM_000465.4(BARD1):c.448C>T (p.Arg150Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2q35

Genomic location:

• Chr2: 214781426 (on Assembly GRCh38)
• Chr2: 215646150 (on Assembly GRCh37)

Preferred name:

NM_000465.4(BARD1):c.448C>T (p.Arg150Ter)

Other names:

p.R150*:CGA>TGA

HGVS:

• NC_000002.12:g.214781426G>A
• NG_012047.3:g.33286C>T
• NM_000465.4:c.448C>TMANE SELECT
• NM_001282543.2:c.391C>T
• NM_001282545.2:c.215+15635C>T
• NM_001282548.2:c.158+27986C>T
• NM_001282549.2:c.364+10871C>T
• NP_000456.2:p.Arg150Ter
• NP_001269472.1:p.Arg131Ter
• LRG_297t1:c.448C>T
• LRG_297:g.33286C>T
• LRG_297p1:p.Arg150Ter
• NC_000002.11:g.215646150G>A
• NG_012047.2:g.33279C>T
• NM_000465.2:c.448C>T
• NM_000465.3:c.448C>T
• NR_104212.2:n.413C>T
• NR_104215.2:n.356C>T

This HGVS expression did not pass validation

Protein change:

R131*

Links:

dbSNP: rs730881411

NCBI 1000 Genomes Browser:

rs730881411

Molecular consequence:

• NM_001282545.2:c.215+15635C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001282548.2:c.158+27986C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001282549.2:c.364+10871C>T - intron variant - [Sequence Ontology: SO:0001627]
• NR_104212.2:n.413C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_104215.2:n.356C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_000465.4:c.448C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001282543.2:c.391C>T - nonsense - [Sequence Ontology: SO:0001587]