ClinVar

NM_000465.4(BARD1):c.1925G>C (p.Arg642Thr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2q35

Genomic location:

• Chr2: 214730487 (on Assembly GRCh38)
• Chr2: 215595211 (on Assembly GRCh37)

Preferred name:

NM_000465.4(BARD1):c.1925G>C (p.Arg642Thr)

HGVS:

• NC_000002.12:g.214730487C>G
• NG_012047.3:g.84225G>C
• NM_000465.4:c.1925G>CMANE SELECT
• NM_001282543.2:c.1868G>C
• NM_001282545.2:c.572G>C
• NM_001282548.2:c.515G>C
• NM_001282549.2:c.386G>C
• NP_000456.2:p.Arg642Thr
• NP_001269472.1:p.Arg623Thr
• NP_001269474.1:p.Arg191Thr
• NP_001269477.1:p.Arg172Thr
• NP_001269478.1:p.Arg129Thr
• LRG_297t1:c.1925G>C
• LRG_297:g.84225G>C
• LRG_297p1:p.Arg642Thr
• NC_000002.11:g.215595211C>G
• NG_012047.2:g.84218G>C
• NM_000465.2:c.1925G>C
• NM_000465.3:c.1925G>C
• NR_104212.2:n.1890G>C
• NR_104215.2:n.1833G>C
• NR_104216.2:n.1089G>C

This HGVS expression did not pass validation

Protein change:

R129T

Links:

dbSNP: rs1420797541

NCBI 1000 Genomes Browser:

rs1420797541

Molecular consequence:

• NM_000465.4:c.1925G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282543.2:c.1868G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282545.2:c.572G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282548.2:c.515G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282549.2:c.386G>C - missense variant - [Sequence Ontology: SO:0001583]
• NR_104212.2:n.1890G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_104215.2:n.1833G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_104216.2:n.1089G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]