ClinVar

NM_000465.4(BARD1):c.1252C>T (p.Pro418Ser)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2q35

Genomic location:

• Chr2: 214780622 (on Assembly GRCh38)
• Chr2: 215645346 (on Assembly GRCh37)

Preferred name:

NM_000465.4(BARD1):c.1252C>T (p.Pro418Ser)

HGVS:

• NC_000002.12:g.214780622G>A
• NG_012047.3:g.34090C>T
• NM_000465.4:c.1252C>TMANE SELECT
• NM_001282543.2:c.1195C>T
• NM_001282545.2:c.215+16439C>T
• NM_001282548.2:c.159-28067C>T
• NM_001282549.2:c.364+11675C>T
• NP_000456.2:p.Pro418Ser
• NP_001269472.1:p.Pro399Ser
• LRG_297t1:c.1252C>T
• LRG_297:g.34090C>T
• LRG_297p1:p.Pro418Ser
• NC_000002.11:g.215645346G>A
• NM_000465.2:c.1252C>T
• NR_104212.2:n.1217C>T
• NR_104215.2:n.1160C>T

This HGVS expression did not pass validation

Protein change:

P399S

Molecular consequence:

• NM_001282545.2:c.215+16439C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001282548.2:c.159-28067C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001282549.2:c.364+11675C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_000465.4:c.1252C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282543.2:c.1195C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_104212.2:n.1217C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_104215.2:n.1160C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]