ClinVar

NM_000465.4(BARD1):c.1290T>A (p.Thr430=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2q35

Genomic location:

• Chr2: 214780584 (on Assembly GRCh38)
• Chr2: 215645308 (on Assembly GRCh37)

Preferred name:

NM_000465.4(BARD1):c.1290T>A (p.Thr430=)

HGVS:

• NC_000002.12:g.214780584A>T
• NG_012047.3:g.34128T>A
• NM_000465.4:c.1290T>AMANE SELECT
• NM_001282543.2:c.1233T>A
• NM_001282545.2:c.215+16477T>A
• NM_001282548.2:c.159-28029T>A
• NM_001282549.2:c.364+11713T>A
• NP_000456.2:p.Thr430=
• NP_001269472.1:p.Thr411=
• LRG_297t1:c.1290T>A
• LRG_297:g.34128T>A
• LRG_297p1:p.Thr430=
• NC_000002.11:g.215645308A>T
• NG_012047.2:g.34121T>A
• NM_000465.3:c.1290T>A
• NR_104212.2:n.1255T>A
• NR_104215.2:n.1198T>A

This HGVS expression did not pass validation

Links:

dbSNP: rs1574815943

NCBI 1000 Genomes Browser:

rs1574815943

Molecular consequence:

• NM_001282545.2:c.215+16477T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001282548.2:c.159-28029T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001282549.2:c.364+11713T>A - intron variant - [Sequence Ontology: SO:0001627]
• NR_104212.2:n.1255T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_104215.2:n.1198T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_000465.4:c.1290T>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001282543.2:c.1233T>A - synonymous variant - [Sequence Ontology: SO:0001819]