ClinVar

NM_000465.4(BARD1):c.899C>T (p.Pro300Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2q35

Genomic location:

• Chr2: 214780975 (on Assembly GRCh38)
• Chr2: 215645699 (on Assembly GRCh37)

Preferred name:

NM_000465.4(BARD1):c.899C>T (p.Pro300Leu)

HGVS:

• NC_000002.12:g.214780975G>A
• NG_012047.3:g.33737C>T
• NM_000465.4:c.899C>TMANE SELECT
• NM_001282543.2:c.842C>T
• NM_001282545.2:c.215+16086C>T
• NM_001282548.2:c.159-28420C>T
• NM_001282549.2:c.364+11322C>T
• NP_000456.2:p.Pro300Leu
• NP_001269472.1:p.Pro281Leu
• LRG_297t1:c.899C>T
• LRG_297:g.33737C>T
• LRG_297p1:p.Pro300Leu
• NC_000002.11:g.215645699G>A
• NG_012047.2:g.33730C>T
• NM_000465.2:c.899C>T
• NM_000465.3:c.899C>T
• NR_104212.2:n.864C>T
• NR_104215.2:n.807C>T

This HGVS expression did not pass validation

Protein change:

P281L

Links:

dbSNP: rs961232989

NCBI 1000 Genomes Browser:

rs961232989

Molecular consequence:

• NM_001282545.2:c.215+16086C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001282548.2:c.159-28420C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001282549.2:c.364+11322C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_000465.4:c.899C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282543.2:c.842C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_104212.2:n.864C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_104215.2:n.807C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]