ClinVar

NM_000059.4(BRCA2):c.9728C>T (p.Pro3243Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

13q13.1

Genomic location:

• Chr13: 32398241 (on Assembly GRCh38)
• Chr13: 32972378 (on Assembly GRCh37)

Preferred name:

NM_000059.4(BRCA2):c.9728C>T (p.Pro3243Leu)

Other names:

p.P3243L:CCT>CTT

HGVS:

• NC_000013.11:g.32398241C>T
• NG_012772.3:g.87762C>T
• NM_000059.4:c.9728C>TMANE SELECT
• NP_000050.2:p.Pro3243Leu
• NP_000050.3:p.Pro3243Leu
• LRG_293t1:c.9728C>T
• LRG_293:g.87762C>T
• LRG_293p1:p.Pro3243Leu
• NC_000013.10:g.32972378C>T
• NM_000059.3:c.9728C>T
• U43746.1:n.9956C>T
• p.P3243L

This HGVS expression did not pass validation

Nucleotide change:

9956C>T

Protein change:

P3243L

Links:

dbSNP: rs80359241

NCBI 1000 Genomes Browser:

rs80359241

Molecular consequence:

• NM_000059.4:c.9728C>T - missense variant - [Sequence Ontology: SO:0001583]