ClinVar

NM_000465.4(BARD1):c.396G>A (p.Leu132=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2q35

Genomic location:

• Chr2: 214781478 (on Assembly GRCh38)
• Chr2: 215646202 (on Assembly GRCh37)

Preferred name:

NM_000465.4(BARD1):c.396G>A (p.Leu132=)

HGVS:

• NC_000002.12:g.214781478C>T
• NG_012047.3:g.33234G>A
• NM_000465.4:c.396G>AMANE SELECT
• NM_001282543.2:c.339G>A
• NM_001282545.2:c.215+15583G>A
• NM_001282548.2:c.158+27934G>A
• NM_001282549.2:c.364+10819G>A
• NP_000456.2:p.Leu132=
• NP_001269472.1:p.Leu113=
• LRG_297t1:c.396G>A
• LRG_297:g.33234G>A
• LRG_297p1:p.Leu132=
• NC_000002.11:g.215646202C>T
• NG_012047.2:g.33227G>A
• NM_000465.2:c.396G>A
• NM_000465.3:c.396G>A
• NR_104212.2:n.361G>A
• NR_104215.2:n.304G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs1553622703

NCBI 1000 Genomes Browser:

rs1553622703

Molecular consequence:

• NM_001282545.2:c.215+15583G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001282548.2:c.158+27934G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001282549.2:c.364+10819G>A - intron variant - [Sequence Ontology: SO:0001627]
• NR_104212.2:n.361G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_104215.2:n.304G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_000465.4:c.396G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001282543.2:c.339G>A - synonymous variant - [Sequence Ontology: SO:0001819]