ClinVar

NM_000465.4(BARD1):c.1016G>T (p.Ser339Ile)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2q35

Genomic location:

• Chr2: 214780858 (on Assembly GRCh38)
• Chr2: 215645582 (on Assembly GRCh37)

Preferred name:

NM_000465.4(BARD1):c.1016G>T (p.Ser339Ile)

HGVS:

• NC_000002.12:g.214780858C>A
• NG_012047.3:g.33854G>T
• NM_000465.4:c.1016G>TMANE SELECT
• NM_001282543.2:c.959G>T
• NM_001282545.2:c.215+16203G>T
• NM_001282548.2:c.159-28303G>T
• NM_001282549.2:c.364+11439G>T
• NP_000456.2:p.Ser339Ile
• NP_001269472.1:p.Ser320Ile
• LRG_297t1:c.1016G>T
• LRG_297:g.33854G>T
• LRG_297p1:p.Ser339Ile
• NC_000002.11:g.215645582C>A
• NG_012047.2:g.33847G>T
• NM_000465.2:c.1016G>T
• NM_000465.3:c.1016G>T
• NR_104212.2:n.981G>T
• NR_104215.2:n.924G>T

This HGVS expression did not pass validation

Protein change:

S320I

Links:

dbSNP: rs201261729

NCBI 1000 Genomes Browser:

rs201261729

Molecular consequence:

• NM_001282545.2:c.215+16203G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001282548.2:c.159-28303G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001282549.2:c.364+11439G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_000465.4:c.1016G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282543.2:c.959G>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_104212.2:n.981G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_104215.2:n.924G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]