ClinVar

NM_000465.4(BARD1):c.1973G>A (p.Arg658His)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2q35

Genomic location:

• Chr2: 214730439 (on Assembly GRCh38)
• Chr2: 215595163 (on Assembly GRCh37)

Preferred name:

NM_000465.4(BARD1):c.1973G>A (p.Arg658His)

Other names:

NP_000456.2:p.Arg658His

HGVS:

• NC_000002.12:g.214730439C>T
• NG_012047.3:g.84273G>A
• NM_000465.4:c.1973G>AMANE SELECT
• NM_001282543.2:c.1916G>A
• NM_001282545.2:c.620G>A
• NM_001282548.2:c.563G>A
• NM_001282549.2:c.434G>A
• NP_000456.2:p.Arg658His
• NP_001269472.1:p.Arg639His
• NP_001269474.1:p.Arg207His
• NP_001269477.1:p.Arg188His
• NP_001269478.1:p.Arg145His
• LRG_297t1:c.1973G>A
• LRG_297:g.84273G>A
• LRG_297p1:p.Arg658His
• NC_000002.11:g.215595163C>T
• NG_012047.2:g.84266G>A
• NM_000465.2:c.1973G>A
• NM_000465.3:c.1973G>A
• NR_104212.2:n.1938G>A
• NR_104215.2:n.1881G>A
• NR_104216.2:n.1137G>A

This HGVS expression did not pass validation

Protein change:

R145H

Links:

dbSNP: rs377227840

NCBI 1000 Genomes Browser:

rs377227840

Molecular consequence:

• NM_000465.4:c.1973G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282543.2:c.1916G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282545.2:c.620G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282548.2:c.563G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282549.2:c.434G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_104212.2:n.1938G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_104215.2:n.1881G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_104216.2:n.1137G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]