ClinVar

NM_000059.4(BRCA2):c.-26G>A

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

13q13.1

Genomic location:

• Chr13: 32316435 (on Assembly GRCh38)
• Chr13: 32890572 (on Assembly GRCh37)

Preferred name:

NM_000059.4(BRCA2):c.-26G>A

Other names:

203G/A; 203G>A; 203 G>A

HGVS:

• NC_000013.11:g.32316435G>A
• NG_012772.3:g.5956G>A
• NG_017006.2:g.3929C>T
• NM_000059.4:c.-26G>AMANE SELECT
• LRG_293t1:c.-26G>A
• LRG_293:g.5956G>A
• NC_000013.10:g.32890572G>A
• NG_017006.1:g.520C>T
• NM_000059.3:c.-26G>A
• NM_000059.4:c.-26G>A
• U43746.1:n.203G>A

This HGVS expression did not pass validation

Nucleotide change:

5'UTR203G>A

Links:

Breast Cancer Information Core (BIC) (BRCA2): 203&base_change=G to A; dbSNP: rs1799943

NCBI 1000 Genomes Browser:

rs1799943

Molecular consequence:

• NM_000059.4:c.-26G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]