ClinVar

NM_000059.4(BRCA2):c.8695C>T (p.Gln2899Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

13q13.1

Genomic location:

• Chr13: 32376732 (on Assembly GRCh38)
• Chr13: 32950869 (on Assembly GRCh37)

Preferred name:

NM_000059.4(BRCA2):c.8695C>T (p.Gln2899Ter)

HGVS:

• NC_000013.11:g.32376732C>T
• NG_012772.3:g.66253C>T
• NM_000059.4:c.8695C>TMANE SELECT
• NP_000050.2:p.Gln2899Ter
• NP_000050.3:p.Gln2899Ter
• LRG_293t1:c.8695C>T
• LRG_293:g.66253C>T
• LRG_293p1:p.Gln2899Ter
• NC_000013.10:g.32950869C>T
• NM_000059.3:c.8695C>T
• p.Gln2899*

This HGVS expression did not pass validation

Nucleotide change:

8923C>T

Protein change:

Q2899*

Links:

dbSNP: rs397507411

NCBI 1000 Genomes Browser:

rs397507411

Molecular consequence:

• NM_000059.4:c.8695C>T - nonsense - [Sequence Ontology: SO:0001587]