ClinVar

NM_000465.4(BARD1):c.449G>T (p.Arg150Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2q35

Genomic location:

• Chr2: 214781425 (on Assembly GRCh38)
• Chr2: 215646149 (on Assembly GRCh37)

Preferred name:

NM_000465.4(BARD1):c.449G>T (p.Arg150Leu)

HGVS:

• NC_000002.12:g.214781425C>A
• NG_012047.3:g.33287G>T
• NM_000465.4:c.449G>TMANE SELECT
• NM_001282543.2:c.392G>T
• NM_001282545.2:c.215+15636G>T
• NM_001282548.2:c.158+27987G>T
• NM_001282549.2:c.364+10872G>T
• NP_000456.2:p.Arg150Leu
• NP_001269472.1:p.Arg131Leu
• LRG_297t1:c.449G>T
• LRG_297:g.33287G>T
• LRG_297p1:p.Arg150Leu
• NC_000002.11:g.215646149C>A
• NC_000002.11:g.215646149C>A
• NG_012047.2:g.33280G>T
• NR_104212.2:n.414G>T
• NR_104215.2:n.357G>T

This HGVS expression did not pass validation

Protein change:

R131L

Links:

dbSNP: rs730881412

NCBI 1000 Genomes Browser:

rs730881412

Molecular consequence:

• NM_001282545.2:c.215+15636G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001282548.2:c.158+27987G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001282549.2:c.364+10872G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_000465.4:c.449G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282543.2:c.392G>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_104212.2:n.414G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_104215.2:n.357G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]