ClinVar

NM_000059.4(BRCA2):c.631+43G>T

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

13q13.1

Genomic location:

• Chr13: 32326656 (on Assembly GRCh38)
• Chr13: 32900793 (on Assembly GRCh37)

Preferred name:

NM_000059.4(BRCA2):c.631+43G>T

Other names:

IVS7+43G>T

HGVS:

• NC_000013.11:g.32326656G>T
• NG_012772.3:g.16177G>T
• NM_000059.4:c.631+43G>TMANE SELECT
• LRG_293t1:c.631+43G>T
• LRG_293:g.16177G>T
• NC_000013.10:g.32900793G>T
• NM_000059.3:c.631+43G>T
• U43746.1:n.859+43G>T

This HGVS expression did not pass validation

Links:

Breast Cancer Information Core (BIC) (BRCA2): 859+43&base_change=G to T; dbSNP: rs276174869

NCBI 1000 Genomes Browser:

rs276174869

Molecular consequence:

• NM_000059.4:c.631+43G>T - intron variant - [Sequence Ontology: SO:0001627]