ClinVar

NM_000465.4(BARD1):c.1023G>A (p.Leu341=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2q35

Genomic location:

• Chr2: 214780851 (on Assembly GRCh38)
• Chr2: 215645575 (on Assembly GRCh37)

Preferred name:

NM_000465.4(BARD1):c.1023G>A (p.Leu341=)

HGVS:

• NC_000002.12:g.214780851C>T
• NG_012047.3:g.33861G>A
• NM_000465.4:c.1023G>AMANE SELECT
• NM_001282543.2:c.966G>A
• NM_001282545.2:c.215+16210G>A
• NM_001282548.2:c.159-28296G>A
• NM_001282549.2:c.364+11446G>A
• NP_000456.2:p.Leu341=
• NP_001269472.1:p.Leu322=
• LRG_297t1:c.1023G>A
• LRG_297:g.33861G>A
• LRG_297p1:p.Leu341=
• NC_000002.11:g.215645575C>T
• NG_012047.2:g.33854G>A
• NM_000465.2:c.1023G>A
• NM_000465.3:c.1023G>A
• NR_104212.2:n.988G>A
• NR_104215.2:n.931G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs1553622298

NCBI 1000 Genomes Browser:

rs1553622298

Molecular consequence:

• NM_001282545.2:c.215+16210G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001282548.2:c.159-28296G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001282549.2:c.364+11446G>A - intron variant - [Sequence Ontology: SO:0001627]
• NR_104212.2:n.988G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_104215.2:n.931G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_000465.4:c.1023G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001282543.2:c.966G>A - synonymous variant - [Sequence Ontology: SO:0001819]