ClinVar

NM_000465.4(BARD1):c.389A>C (p.Lys130Thr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2q35

Genomic location:

• Chr2: 214781485 (on Assembly GRCh38)
• Chr2: 215646209 (on Assembly GRCh37)

Preferred name:

NM_000465.4(BARD1):c.389A>C (p.Lys130Thr)

HGVS:

• NC_000002.12:g.214781485T>G
• NG_012047.3:g.33227A>C
• NM_000465.4:c.389A>CMANE SELECT
• NM_001282543.2:c.332A>C
• NM_001282545.2:c.215+15576A>C
• NM_001282548.2:c.158+27927A>C
• NM_001282549.2:c.364+10812A>C
• NP_000456.2:p.Lys130Thr
• NP_001269472.1:p.Lys111Thr
• LRG_297t1:c.389A>C
• LRG_297:g.33227A>C
• LRG_297p1:p.Lys130Thr
• NC_000002.11:g.215646209T>G
• NG_012047.2:g.33220A>C
• NM_000465.2:c.389A>C
• NM_000465.3:c.389A>C
• NR_104212.2:n.354A>C
• NR_104215.2:n.297A>C

This HGVS expression did not pass validation

Protein change:

K111T

Links:

dbSNP: rs1174079177

NCBI 1000 Genomes Browser:

rs1174079177

Molecular consequence:

• NM_001282545.2:c.215+15576A>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001282548.2:c.158+27927A>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001282549.2:c.364+10812A>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_000465.4:c.389A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282543.2:c.332A>C - missense variant - [Sequence Ontology: SO:0001583]
• NR_104212.2:n.354A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_104215.2:n.297A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]