ClinVar

NM_000465.4(BARD1):c.427A>T (p.Ile143Phe)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2q35

Genomic location:

• Chr2: 214781447 (on Assembly GRCh38)
• Chr2: 215646171 (on Assembly GRCh37)

Preferred name:

NM_000465.4(BARD1):c.427A>T (p.Ile143Phe)

HGVS:

• NC_000002.12:g.214781447T>A
• NG_012047.3:g.33265A>T
• NM_000465.4:c.427A>TMANE SELECT
• NM_001282543.2:c.370A>T
• NM_001282545.2:c.215+15614A>T
• NM_001282548.2:c.158+27965A>T
• NM_001282549.2:c.364+10850A>T
• NP_000456.2:p.Ile143Phe
• NP_001269472.1:p.Ile124Phe
• LRG_297t1:c.427A>T
• LRG_297:g.33265A>T
• LRG_297p1:p.Ile143Phe
• NC_000002.11:g.215646171T>A
• NG_012047.2:g.33258A>T
• NM_000465.2:c.427A>T
• NM_000465.3:c.427A>T
• NR_104212.2:n.392A>T
• NR_104215.2:n.335A>T

This HGVS expression did not pass validation

Protein change:

I124F

Links:

dbSNP: rs1060501289

NCBI 1000 Genomes Browser:

rs1060501289

Molecular consequence:

• NM_001282545.2:c.215+15614A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001282548.2:c.158+27965A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001282549.2:c.364+10850A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_000465.4:c.427A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282543.2:c.370A>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_104212.2:n.392A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_104215.2:n.335A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]