ClinVar

NM_000465.4(BARD1):c.473T>A (p.Val158Glu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2q35

Genomic location:

• Chr2: 214781401 (on Assembly GRCh38)
• Chr2: 215646125 (on Assembly GRCh37)

Preferred name:

NM_000465.4(BARD1):c.473T>A (p.Val158Glu)

Other names:

p.V158E:GTG>GAG

HGVS:

• NC_000002.12:g.214781401A>T
• NG_012047.3:g.33311T>A
• NM_000465.4:c.473T>AMANE SELECT
• NM_001282543.2:c.416T>A
• NM_001282545.2:c.215+15660T>A
• NM_001282548.2:c.158+28011T>A
• NM_001282549.2:c.364+10896T>A
• NP_000456.2:p.Val158Glu
• NP_001269472.1:p.Val139Glu
• LRG_297t1:c.473T>A
• LRG_297:g.33311T>A
• LRG_297p1:p.Val158Glu
• NC_000002.11:g.215646125A>T
• NG_012047.2:g.33304T>A
• NM_000465.2:c.473T>A
• NM_000465.3:c.473T>A
• NR_104212.2:n.438T>A
• NR_104215.2:n.381T>A

This HGVS expression did not pass validation

Protein change:

V139E

Links:

dbSNP: rs730881414

NCBI 1000 Genomes Browser:

rs730881414

Molecular consequence:

• NM_001282545.2:c.215+15660T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001282548.2:c.158+28011T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001282549.2:c.364+10896T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_000465.4:c.473T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282543.2:c.416T>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_104212.2:n.438T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_104215.2:n.381T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]