ClinVar

NM_000059.4(BRCA2):c.2507C>T (p.Pro836Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

13q13.1

Genomic location:

• Chr13: 32336862 (on Assembly GRCh38)
• Chr13: 32910999 (on Assembly GRCh37)

Preferred name:

NM_000059.4(BRCA2):c.2507C>T (p.Pro836Leu)

HGVS:

• NC_000013.11:g.32336862C>T
• NG_012772.3:g.26383C>T
• NM_000059.4:c.2507C>TMANE SELECT
• NP_000050.3:p.Pro836Leu
• LRG_293t1:c.2507C>T
• LRG_293:g.26383C>T
• NC_000013.10:g.32910999C>T
• NM_000059.3:c.2507C>T

This HGVS expression did not pass validation

Nucleotide change:

2735C>T

Protein change:

P836L

Links:

dbSNP: rs397507288

NCBI 1000 Genomes Browser:

rs397507288

Molecular consequence:

• NM_000059.4:c.2507C>T - missense variant - [Sequence Ontology: SO:0001583]