ClinVar

NM_000059.4(BRCA2):c.2138A>T (p.Gln713Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

13q13.1

Genomic location:

• Chr13: 32336493 (on Assembly GRCh38)
• Chr13: 32910630 (on Assembly GRCh37)

Preferred name:

NM_000059.4(BRCA2):c.2138A>T (p.Gln713Leu)

Other names:

p.Q713L:CAG>CTG; NP_000050.3:p.Gln713Leu

HGVS:

• NC_000013.11:g.32336493A>T
• NG_012772.3:g.26014A>T
• NM_000059.4:c.2138A>TMANE SELECT
• NP_000050.2:p.Gln713Leu
• NP_000050.3:p.Gln713Leu
• LRG_293t1:c.2138A>T
• LRG_293:g.26014A>T
• LRG_293p1:p.Gln713Leu
• NC_000013.10:g.32910630A>T
• NM_000059.3:c.2138A>T
• NM_000059.4:c.2138A>T
• U43746.1:n.2366A>T
• p.Q713L

This HGVS expression did not pass validation

Nucleotide change:

2366A>T

Protein change:

Q713L

Links:

dbSNP: rs55816687

NCBI 1000 Genomes Browser:

rs55816687

Molecular consequence:

• NM_000059.4:c.2138A>T - missense variant - [Sequence Ontology: SO:0001583]