ClinVar

NM_000465.4(BARD1):c.700G>T (p.Glu234Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2q35

Genomic location:

• Chr2: 214781174 (on Assembly GRCh38)
• Chr2: 215645898 (on Assembly GRCh37)

Preferred name:

NM_000465.4(BARD1):c.700G>T (p.Glu234Ter)

HGVS:

• NC_000002.12:g.214781174C>A
• NG_012047.3:g.33538G>T
• NM_000465.4:c.700G>TMANE SELECT
• NM_001282543.2:c.643G>T
• NM_001282545.2:c.215+15887G>T
• NM_001282548.2:c.158+28238G>T
• NM_001282549.2:c.364+11123G>T
• NP_000456.2:p.Glu234Ter
• NP_001269472.1:p.Glu215Ter
• LRG_297t1:c.700G>T
• LRG_297:g.33538G>T
• LRG_297p1:p.Glu234Ter
• NC_000002.11:g.215645898C>A
• NC_000002.11:g.215645898C>A
• NG_012047.2:g.33531G>T
• NM_000465.2:c.700G>T
• NR_104212.2:n.665G>T
• NR_104215.2:n.608G>T

This HGVS expression did not pass validation

Protein change:

E215*

Links:

dbSNP: rs905491643

NCBI 1000 Genomes Browser:

rs905491643

Molecular consequence:

• NM_001282545.2:c.215+15887G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001282548.2:c.158+28238G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001282549.2:c.364+11123G>T - intron variant - [Sequence Ontology: SO:0001627]
• NR_104212.2:n.665G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_104215.2:n.608G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_000465.4:c.700G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001282543.2:c.643G>T - nonsense - [Sequence Ontology: SO:0001587]