ClinVar

NM_000465.4(BARD1):c.500C>A (p.Pro167His)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2q35

Genomic location:

• Chr2: 214781374 (on Assembly GRCh38)
• Chr2: 215646098 (on Assembly GRCh37)

Preferred name:

NM_000465.4(BARD1):c.500C>A (p.Pro167His)

HGVS:

• NC_000002.12:g.214781374G>T
• NG_012047.3:g.33338C>A
• NM_000465.4:c.500C>AMANE SELECT
• NM_001282543.2:c.443C>A
• NM_001282545.2:c.215+15687C>A
• NM_001282548.2:c.158+28038C>A
• NM_001282549.2:c.364+10923C>A
• NP_000456.2:p.Pro167His
• NP_001269472.1:p.Pro148His
• LRG_297t1:c.500C>A
• LRG_297:g.33338C>A
• LRG_297p1:p.Pro167His
• NC_000002.11:g.215646098G>T
• NM_000465.2:c.500C>A
• NR_104212.2:n.465C>A
• NR_104215.2:n.408C>A

This HGVS expression did not pass validation

Protein change:

P148H

Links:

dbSNP: rs1695024043

NCBI 1000 Genomes Browser:

rs1695024043

Molecular consequence:

• NM_001282545.2:c.215+15687C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001282548.2:c.158+28038C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001282549.2:c.364+10923C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_000465.4:c.500C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282543.2:c.443C>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_104212.2:n.465C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_104215.2:n.408C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]