ClinVar

NM_000465.4(BARD1):c.716T>A (p.Leu239Gln)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2q35

Genomic location:

• Chr2: 214781158 (on Assembly GRCh38)
• Chr2: 215645882 (on Assembly GRCh37)

Preferred name:

NM_000465.4(BARD1):c.716T>A (p.Leu239Gln)

Other names:

p.L239Q:CTG>CAG

HGVS:

• NC_000002.12:g.214781158A>T
• NG_012047.3:g.33554T>A
• NM_000465.4:c.716T>AMANE SELECT
• NM_001282543.2:c.659T>A
• NM_001282545.2:c.215+15903T>A
• NM_001282548.2:c.158+28254T>A
• NM_001282549.2:c.364+11139T>A
• NP_000456.2:p.Leu239Gln
• NP_001269472.1:p.Leu220Gln
• LRG_297t1:c.716T>A
• LRG_297:g.33554T>A
• LRG_297p1:p.Leu239Gln
• NC_000002.11:g.215645882A>T
• NG_012047.2:g.33547T>A
• NM_000465.2:c.716T>A
• NM_000465.3:c.716T>A
• NR_104212.2:n.681T>A
• NR_104215.2:n.624T>A
• p.L239Q

This HGVS expression did not pass validation

Protein change:

L220Q

Links:

dbSNP: rs200359745

NCBI 1000 Genomes Browser:

rs200359745

Molecular consequence:

• NM_001282545.2:c.215+15903T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001282548.2:c.158+28254T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001282549.2:c.364+11139T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_000465.4:c.716T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282543.2:c.659T>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_104212.2:n.681T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_104215.2:n.624T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]