ClinVar

NM_000059.4(BRCA2):c.4111C>T (p.Gln1371Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

13q13.1

Genomic location:

• Chr13: 32338466 (on Assembly GRCh38)
• Chr13: 32912603 (on Assembly GRCh37)

Preferred name:

NM_000059.4(BRCA2):c.4111C>T (p.Gln1371Ter)

HGVS:

• NC_000013.11:g.32338466C>T
• NG_012772.3:g.27987C>T
• NM_000059.4:c.4111C>TMANE SELECT
• NP_000050.2:p.Gln1371Ter
• NP_000050.3:p.Gln1371Ter
• LRG_293t1:c.4111C>T
• LRG_293:g.27987C>T
• LRG_293p1:p.Gln1371Ter
• NC_000013.10:g.32912603C>T
• NM_000059.3:c.4111C>T
• U43746.1:n.4339C>T
• p.Gln1371*
• p.Q1371*

This HGVS expression did not pass validation

Nucleotide change:

4339C>T

Protein change:

Q1371*

Links:

dbSNP: rs80358659

NCBI 1000 Genomes Browser:

rs80358659

Molecular consequence:

• NM_000059.4:c.4111C>T - nonsense - [Sequence Ontology: SO:0001587]