ClinVar

NM_000059.4(BRCA2):c.267G>A (p.Pro89=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

13q13.1

Genomic location:

• Chr13: 32319276 (on Assembly GRCh38)
• Chr13: 32893413 (on Assembly GRCh37)

Preferred name:

NM_000059.4(BRCA2):c.267G>A (p.Pro89=)

Other names:

p.P89P:CCG>CCA

HGVS:

• NC_000013.11:g.32319276G>A
• NG_012772.3:g.8797G>A
• NG_017006.2:g.1088C>T
• NM_000059.4:c.267G>AMANE SELECT
• NP_000050.2:p.Pro89=
• NP_000050.3:p.Pro89=
• LRG_293t1:c.267G>A
• LRG_293:g.8797G>A
• LRG_293p1:p.Pro89=
• NC_000013.10:g.32893413G>A
• NM_000059.3:c.267G>A
• p.P89P
• p.Pro89Pro

This HGVS expression did not pass validation

Links:

dbSNP: rs587780648

NCBI 1000 Genomes Browser:

rs587780648

Molecular consequence:

• NM_000059.4:c.267G>A - synonymous variant - [Sequence Ontology: SO:0001819]