ClinVar

NM_000059.4(BRCA2):c.8632+1G>A

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

13q13.1

Genomic location:

• Chr13: 32371101 (on Assembly GRCh38)
• Chr13: 32945238 (on Assembly GRCh37)

Preferred name:

NM_000059.4(BRCA2):c.8632+1G>A

HGVS:

• NC_000013.11:g.32371101G>A
• NG_012772.3:g.60622G>A
• NM_000059.4:c.8632+1G>AMANE SELECT
• NM_001406719.1:c.8536+1G>A
• NM_001406720.1:c.8632+1G>A
• NM_001406721.1:c.3700+1G>A
• NM_001406722.1:c.2215+1G>A
• LRG_293t1:c.8632+1G>A
• LRG_293:g.60622G>A
• NC_000013.10:g.32945238G>A
• NM_000059.3:c.8632+1G>A

This HGVS expression did not pass validation

Nucleotide change:

IVS20+1G>A

Links:

dbSNP: rs397507997

NCBI 1000 Genomes Browser:

rs397507997

Molecular consequence:

• NM_000059.4:c.8632+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001406719.1:c.8536+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001406720.1:c.8632+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001406721.1:c.3700+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001406722.1:c.2215+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]