ClinVar

NM_000465.4(BARD1):c.429T>A (p.Ile143=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2q35

Genomic location:

• Chr2: 214781445 (on Assembly GRCh38)
• Chr2: 215646169 (on Assembly GRCh37)

Preferred name:

NM_000465.4(BARD1):c.429T>A (p.Ile143=)

HGVS:

• NC_000002.12:g.214781445A>T
• NG_012047.3:g.33267T>A
• NM_000465.4:c.429T>AMANE SELECT
• NM_001282543.2:c.372T>A
• NM_001282545.2:c.215+15616T>A
• NM_001282548.2:c.158+27967T>A
• NM_001282549.2:c.364+10852T>A
• NP_000456.2:p.Ile143=
• NP_001269472.1:p.Ile124=
• LRG_297t1:c.429T>A
• LRG_297:g.33267T>A
• LRG_297p1:p.Ile143=
• NC_000002.11:g.215646169A>T
• NR_104212.2:n.394T>A
• NR_104215.2:n.337T>A

This HGVS expression did not pass validation

Links:

dbSNP: rs1695029571

NCBI 1000 Genomes Browser:

rs1695029571

Molecular consequence:

• NM_001282545.2:c.215+15616T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001282548.2:c.158+27967T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001282549.2:c.364+10852T>A - intron variant - [Sequence Ontology: SO:0001627]
• NR_104212.2:n.394T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_104215.2:n.337T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_000465.4:c.429T>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001282543.2:c.372T>A - synonymous variant - [Sequence Ontology: SO:0001819]