ClinVar

NM_000059.4(BRCA2):c.9883C>T (p.Gln3295Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

13q13.1

Genomic location:

• Chr13: 32398396 (on Assembly GRCh38)
• Chr13: 32972533 (on Assembly GRCh37)

Preferred name:

NM_000059.4(BRCA2):c.9883C>T (p.Gln3295Ter)

HGVS:

• NC_000013.11:g.32398396C>T
• NG_012772.3:g.87917C>T
• NM_000059.4:c.9883C>TMANE SELECT
• NP_000050.2:p.Gln3295Ter
• NP_000050.3:p.Gln3295Ter
• LRG_293t1:c.9883C>T
• LRG_293:g.87917C>T
• LRG_293p1:p.Gln3295Ter
• NC_000013.10:g.32972533C>T
• NM_000059.3:c.9883C>T
• U43746.1:n.10111C>T

This HGVS expression did not pass validation

Protein change:

Q3295*

Links:

dbSNP: rs80359247

NCBI 1000 Genomes Browser:

rs80359247

Molecular consequence:

• NM_000059.4:c.9883C>T - nonsense - [Sequence Ontology: SO:0001587]