ClinVar

NM_000465.4(BARD1):c.363A>T (p.Ser121=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2q35

Genomic location:

• Chr2: 214792298 (on Assembly GRCh38)
• Chr2: 215657022 (on Assembly GRCh37)

Preferred name:

NM_000465.4(BARD1):c.363A>T (p.Ser121=)

HGVS:

• NC_000002.12:g.214792298T>A
• NG_012047.3:g.22414A>T
• NM_000465.4:c.363A>TMANE SELECT
• NM_001282543.2:c.306A>T
• NM_001282545.2:c.215+4763A>T
• NM_001282548.2:c.158+17114A>T
• NM_001282549.2:c.363A>T
• NP_000456.2:p.Ser121=
• NP_001269472.1:p.Ser102=
• NP_001269478.1:p.Ser121=
• LRG_297t1:c.363A>T
• LRG_297:g.22414A>T
• LRG_297p1:p.Ser121=
• NC_000002.11:g.215657022T>A
• NC_000002.11:g.215657022T>A
• NG_012047.2:g.22407A>T
• NM_000465.2:c.363A>T
• NM_000465.3:c.363A>T
• NR_104216.2:n.477A>T

This HGVS expression did not pass validation

Links:

dbSNP: rs1553624704

NCBI 1000 Genomes Browser:

rs1553624704

Molecular consequence:

• NM_001282545.2:c.215+4763A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001282548.2:c.158+17114A>T - intron variant - [Sequence Ontology: SO:0001627]
• NR_104216.2:n.477A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_000465.4:c.363A>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001282543.2:c.306A>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001282549.2:c.363A>T - synonymous variant - [Sequence Ontology: SO:0001819]