ClinVar

NM_000465.4(BARD1):c.526C>T (p.Gln176Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2q35

Genomic location:

• Chr2: 214781348 (on Assembly GRCh38)
• Chr2: 215646072 (on Assembly GRCh37)

Preferred name:

NM_000465.4(BARD1):c.526C>T (p.Gln176Ter)

HGVS:

• NC_000002.12:g.214781348G>A
• NG_012047.3:g.33364C>T
• NM_000465.4:c.526C>TMANE SELECT
• NM_001282543.2:c.469C>T
• NM_001282545.2:c.215+15713C>T
• NM_001282548.2:c.158+28064C>T
• NM_001282549.2:c.364+10949C>T
• NP_000456.2:p.Gln176Ter
• NP_001269472.1:p.Gln157Ter
• LRG_297t1:c.526C>T
• LRG_297:g.33364C>T
• LRG_297p1:p.Gln176Ter
• NC_000002.11:g.215646072G>A
• NG_012047.2:g.33357C>T
• NM_000465.2:c.526C>T
• NM_000465.3:c.526C>T
• NR_104212.2:n.491C>T
• NR_104215.2:n.434C>T

This HGVS expression did not pass validation

Protein change:

Q157*

Links:

dbSNP: rs776851287

NCBI 1000 Genomes Browser:

rs776851287

Molecular consequence:

• NM_001282545.2:c.215+15713C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001282548.2:c.158+28064C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001282549.2:c.364+10949C>T - intron variant - [Sequence Ontology: SO:0001627]
• NR_104212.2:n.491C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_104215.2:n.434C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_000465.4:c.526C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001282543.2:c.469C>T - nonsense - [Sequence Ontology: SO:0001587]