ClinVar

NM_000059.4(BRCA2):c.67+40G>A

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

13q13.1

Genomic location:

• Chr13: 32316567 (on Assembly GRCh38)
• Chr13: 32890704 (on Assembly GRCh37)

Preferred name:

NM_000059.4(BRCA2):c.67+40G>A

HGVS:

• NC_000013.11:g.32316567G>A
• NG_012772.3:g.6088G>A
• NG_017006.2:g.3797C>T
• NM_000059.4:c.67+40G>AMANE SELECT
• LRG_293t1:c.67+40G>A
• LRG_293:g.6088G>A
• NC_000013.10:g.32890704G>A
• NG_017006.1:g.388C>T
• NM_000059.3:c.67+40G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs371493518

NCBI 1000 Genomes Browser:

rs371493518

Molecular consequence:

• NM_000059.4:c.67+40G>A - intron variant - [Sequence Ontology: SO:0001627]