ClinVar

NM_000059.4(BRCA2):c.7878G>C (p.Trp2626Cys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

13q13.1

Genomic location:

• Chr13: 32362595 (on Assembly GRCh38)
• Chr13: 32936732 (on Assembly GRCh37)

Preferred name:

NM_000059.4(BRCA2):c.7878G>C (p.Trp2626Cys)

HGVS:

• NC_000013.11:g.32362595G>C
• NG_012772.3:g.52116G>C
• NM_000059.4:c.7878G>CMANE SELECT
• NP_000050.2:p.Trp2626Cys
• NP_000050.3:p.Trp2626Cys
• LRG_293t1:c.7878G>C
• LRG_293:g.52116G>C
• LRG_293p1:p.Trp2626Cys
• NC_000013.10:g.32936732G>C
• NM_000059.3:c.7878G>C
• U43746.1:n.8106G>C
• p.W2626C

This HGVS expression did not pass validation

Nucleotide change:

8106G>C

Protein change:

W2626C

Links:

dbSNP: rs80359013

NCBI 1000 Genomes Browser:

rs80359013

Molecular consequence:

• NM_000059.4:c.7878G>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1