ClinVar

NM_000465.4(BARD1):c.841C>T (p.Pro281Ser)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2q35

Genomic location:

• Chr2: 214781033 (on Assembly GRCh38)
• Chr2: 215645757 (on Assembly GRCh37)

Preferred name:

NM_000465.4(BARD1):c.841C>T (p.Pro281Ser)

Other names:

p.P281S:CCA>TCA

HGVS:

• NC_000002.12:g.214781033G>A
• NG_012047.3:g.33679C>T
• NM_000465.4:c.841C>TMANE SELECT
• NM_001282543.2:c.784C>T
• NM_001282545.2:c.215+16028C>T
• NM_001282548.2:c.158+28379C>T
• NM_001282549.2:c.364+11264C>T
• NP_000456.2:p.Pro281Ser
• NP_001269472.1:p.Pro262Ser
• LRG_297t1:c.841C>T
• LRG_297:g.33679C>T
• LRG_297p1:p.Pro281Ser
• NC_000002.11:g.215645757G>A
• NG_012047.2:g.33672C>T
• NM_000465.2:c.841C>T
• NM_000465.3:c.841C>T
• NR_104212.2:n.806C>T
• NR_104215.2:n.749C>T

This HGVS expression did not pass validation

Protein change:

P262S

Links:

dbSNP: rs200059956

NCBI 1000 Genomes Browser:

rs200059956

Molecular consequence:

• NM_001282545.2:c.215+16028C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001282548.2:c.158+28379C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001282549.2:c.364+11264C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_000465.4:c.841C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282543.2:c.784C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_104212.2:n.806C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_104215.2:n.749C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]