ClinVar

NM_000059.4(BRCA2):c.2526A>C (p.Val842=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

13q13.1

Genomic location:

• Chr13: 32336881 (on Assembly GRCh38)
• Chr13: 32911018 (on Assembly GRCh37)

Preferred name:

NM_000059.4(BRCA2):c.2526A>C (p.Val842=)

HGVS:

• NC_000013.11:g.32336881A>C
• NG_012772.3:g.26402A>C
• NM_000059.4:c.2526A>CMANE SELECT
• NP_000050.2:p.Val842=
• NP_000050.3:p.Val842=
• LRG_293t1:c.2526A>C
• LRG_293:g.26402A>C
• LRG_293p1:p.Val842=
• NC_000013.10:g.32911018A>C
• NM_000059.3:c.2526A>C

This HGVS expression did not pass validation

Links:

dbSNP: rs770778164

NCBI 1000 Genomes Browser:

rs770778164

Molecular consequence:

• NM_000059.4:c.2526A>C - synonymous variant - [Sequence Ontology: SO:0001819]