ClinVar

NM_000465.4(BARD1):c.1104C>G (p.Cys368Trp)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2q35

Genomic location:

• Chr2: 214780770 (on Assembly GRCh38)
• Chr2: 215645494 (on Assembly GRCh37)

Preferred name:

NM_000465.4(BARD1):c.1104C>G (p.Cys368Trp)

HGVS:

• NC_000002.12:g.214780770G>C
• NG_012047.3:g.33942C>G
• NM_000465.4:c.1104C>GMANE SELECT
• NM_001282543.2:c.1047C>G
• NM_001282545.2:c.215+16291C>G
• NM_001282548.2:c.159-28215C>G
• NM_001282549.2:c.364+11527C>G
• NP_000456.2:p.Cys368Trp
• NP_001269472.1:p.Cys349Trp
• LRG_297t1:c.1104C>G
• LRG_297:g.33942C>G
• LRG_297p1:p.Cys368Trp
• NC_000002.11:g.215645494G>C
• NG_012047.2:g.33935C>G
• NM_000465.2:c.1104C>G
• NM_000465.3:c.1104C>G
• NR_104212.2:n.1069C>G
• NR_104215.2:n.1012C>G

This HGVS expression did not pass validation

Protein change:

C349W

Links:

dbSNP: rs371147849

NCBI 1000 Genomes Browser:

rs371147849

Molecular consequence:

• NM_001282545.2:c.215+16291C>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001282548.2:c.159-28215C>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001282549.2:c.364+11527C>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_000465.4:c.1104C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282543.2:c.1047C>G - missense variant - [Sequence Ontology: SO:0001583]
• NR_104212.2:n.1069C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_104215.2:n.1012C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]