ClinVar

NM_000465.4(BARD1):c.769G>A (p.Glu257Lys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2q35

Genomic location:

• Chr2: 214781105 (on Assembly GRCh38)
• Chr2: 215645829 (on Assembly GRCh37)

Preferred name:

NM_000465.4(BARD1):c.769G>A (p.Glu257Lys)

HGVS:

• NC_000002.12:g.214781105C>T
• NG_012047.3:g.33607G>A
• NM_000465.4:c.769G>AMANE SELECT
• NM_001282543.2:c.712G>A
• NM_001282545.2:c.215+15956G>A
• NM_001282548.2:c.158+28307G>A
• NM_001282549.2:c.364+11192G>A
• NP_000456.2:p.Glu257Lys
• NP_001269472.1:p.Glu238Lys
• LRG_297t1:c.769G>A
• LRG_297:g.33607G>A
• LRG_297p1:p.Glu257Lys
• NC_000002.11:g.215645829C>T
• NG_012047.2:g.33600G>A
• NM_000465.2:c.769G>A
• NM_000465.3:c.769G>A
• NR_104212.2:n.734G>A
• NR_104215.2:n.677G>A
• p.E257K

This HGVS expression did not pass validation

Protein change:

E238K

Links:

dbSNP: rs587782673

NCBI 1000 Genomes Browser:

rs587782673

Molecular consequence:

• NM_001282545.2:c.215+15956G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001282548.2:c.158+28307G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001282549.2:c.364+11192G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_000465.4:c.769G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282543.2:c.712G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_104212.2:n.734G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_104215.2:n.677G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]