ClinVar

NM_000465.4(BARD1):c.2251C>T (p.Arg751Trp)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2q35

Genomic location:

• Chr2: 214728759 (on Assembly GRCh38)
• Chr2: 215593483 (on Assembly GRCh37)

Preferred name:

NM_000465.4(BARD1):c.2251C>T (p.Arg751Trp)

Other names:

NP_000456.2:p.Arg751Trp

HGVS:

• NC_000002.12:g.214728759G>A
• NG_012047.3:g.85953C>T
• NM_000465.4:c.2251C>TMANE SELECT
• NM_001282543.2:c.2194C>T
• NM_001282545.2:c.898C>T
• NM_001282548.2:c.841C>T
• NM_001282549.2:c.712C>T
• NP_000456.2:p.Arg751Trp
• NP_001269472.1:p.Arg732Trp
• NP_001269474.1:p.Arg300Trp
• NP_001269477.1:p.Arg281Trp
• NP_001269478.1:p.Arg238Trp
• LRG_297t1:c.2251C>T
• LRG_297:g.85953C>T
• LRG_297p1:p.Arg751Trp
• NC_000002.11:g.215593483G>A
• NG_012047.2:g.85946C>T
• NM_000465.2:c.2251C>T
• NM_000465.3:c.2251C>T
• NR_104212.2:n.2216C>T
• NR_104215.2:n.2159C>T
• NR_104216.2:n.1415C>T

This HGVS expression did not pass validation

Protein change:

R238W

Links:

dbSNP: rs139785364

NCBI 1000 Genomes Browser:

rs139785364

Molecular consequence:

• NM_000465.4:c.2251C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282543.2:c.2194C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282545.2:c.898C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282548.2:c.841C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282549.2:c.712C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_104212.2:n.2216C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_104215.2:n.2159C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_104216.2:n.1415C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

1