ClinVar

NM_000465.4(BARD1):c.1120G>A (p.Gly374Ser)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2q35

Genomic location:

• Chr2: 214780754 (on Assembly GRCh38)
• Chr2: 215645478 (on Assembly GRCh37)

Preferred name:

NM_000465.4(BARD1):c.1120G>A (p.Gly374Ser)

HGVS:

• NC_000002.12:g.214780754C>T
• NG_012047.3:g.33958G>A
• NM_000465.4:c.1120G>AMANE SELECT
• NM_001282543.2:c.1063G>A
• NM_001282545.2:c.215+16307G>A
• NM_001282548.2:c.159-28199G>A
• NM_001282549.2:c.364+11543G>A
• NP_000456.2:p.Gly374Ser
• NP_001269472.1:p.Gly355Ser
• LRG_297t1:c.1120G>A
• LRG_297:g.33958G>A
• LRG_297p1:p.Gly374Ser
• NC_000002.11:g.215645478C>T
• NG_012047.2:g.33951G>A
• NM_000465.2:c.1120G>A
• NR_104212.2:n.1085G>A
• NR_104215.2:n.1028G>A

This HGVS expression did not pass validation

Protein change:

G355S

Links:

dbSNP: rs1553622239

NCBI 1000 Genomes Browser:

rs1553622239

Molecular consequence:

• NM_001282545.2:c.215+16307G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001282548.2:c.159-28199G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001282549.2:c.364+11543G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_000465.4:c.1120G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282543.2:c.1063G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_104212.2:n.1085G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_104215.2:n.1028G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]