ClinVar

NM_000465.4(BARD1):c.808G>C (p.Glu270Gln)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2q35

Genomic location:

• Chr2: 214781066 (on Assembly GRCh38)
• Chr2: 215645790 (on Assembly GRCh37)

Preferred name:

NM_000465.4(BARD1):c.808G>C (p.Glu270Gln)

HGVS:

• NC_000002.12:g.214781066C>G
• NG_012047.3:g.33646G>C
• NM_000465.4:c.808G>CMANE SELECT
• NM_001282543.2:c.751G>C
• NM_001282545.2:c.215+15995G>C
• NM_001282548.2:c.158+28346G>C
• NM_001282549.2:c.364+11231G>C
• NP_000456.2:p.Glu270Gln
• NP_001269472.1:p.Glu251Gln
• LRG_297t1:c.808G>C
• LRG_297:g.33646G>C
• LRG_297p1:p.Glu270Gln
• NC_000002.11:g.215645790C>G
• NG_012047.2:g.33639G>C
• NM_000465.2:c.808G>C
• NM_000465.3:c.808G>C
• NR_104212.2:n.773G>C
• NR_104215.2:n.716G>C

This HGVS expression did not pass validation

Protein change:

E251Q

Links:

dbSNP: rs1060501288

NCBI 1000 Genomes Browser:

rs1060501288

Molecular consequence:

• NM_001282545.2:c.215+15995G>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001282548.2:c.158+28346G>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001282549.2:c.364+11231G>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_000465.4:c.808G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282543.2:c.751G>C - missense variant - [Sequence Ontology: SO:0001583]
• NR_104212.2:n.773G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_104215.2:n.716G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]