ClinVar

NM_000465.4(BARD1):c.2226G>A (p.Leu742=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2q35

Genomic location:

• Chr2: 214728784 (on Assembly GRCh38)
• Chr2: 215593508 (on Assembly GRCh37)

Preferred name:

NM_000465.4(BARD1):c.2226G>A (p.Leu742=)

HGVS:

• NC_000002.12:g.214728784C>T
• NG_012047.3:g.85928G>A
• NM_000465.4:c.2226G>AMANE SELECT
• NM_001282543.2:c.2169G>A
• NM_001282545.2:c.873G>A
• NM_001282548.2:c.816G>A
• NM_001282549.2:c.687G>A
• NP_000456.2:p.Leu742=
• NP_001269472.1:p.Leu723=
• NP_001269474.1:p.Leu291=
• NP_001269477.1:p.Leu272=
• NP_001269478.1:p.Leu229=
• LRG_297t1:c.2226G>A
• LRG_297:g.85928G>A
• LRG_297p1:p.Leu742=
• NC_000002.11:g.215593508C>T
• NG_012047.2:g.85921G>A
• NM_000465.2:c.2226G>A
• NR_104212.2:n.2191G>A
• NR_104215.2:n.2134G>A
• NR_104216.2:n.1390G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs1064793606

NCBI 1000 Genomes Browser:

rs1064793606

Molecular consequence:

• NR_104212.2:n.2191G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_104215.2:n.2134G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_104216.2:n.1390G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_000465.4:c.2226G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001282543.2:c.2169G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001282545.2:c.873G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001282548.2:c.816G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001282549.2:c.687G>A - synonymous variant - [Sequence Ontology: SO:0001819]