ClinVar

NM_000059.4(BRCA2):c.7877G>A (p.Trp2626Ter)

Gene:

BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

13q13.1

Genomic location:

• Chr13: 32362594 (on Assembly GRCh38)
• Chr13: 32936731 (on Assembly GRCh37)

Preferred name:

NM_000059.4(BRCA2):c.7877G>A (p.Trp2626Ter)

HGVS:

• NC_000013.11:g.32362594G>A
• NG_012772.3:g.52115G>A
• NM_000059.4:c.7877G>AMANE SELECT
• NP_000050.2:p.Trp2626Ter
• NP_000050.3:p.Trp2626Ter
• LRG_293t1:c.7877G>A
• LRG_293:g.52115G>A
• LRG_293p1:p.Trp2626Ter
• NC_000013.10:g.32936731G>A
• NM_000059.3:c.7877G>A
• p.W2626*

This HGVS expression did not pass validation

Protein change:

W2626*

Links:

dbSNP: rs587781506

NCBI 1000 Genomes Browser:

rs587781506

Molecular consequence:

• NM_000059.4:c.7877G>A - nonsense - [Sequence Ontology: SO:0001587]

Observations:

1