ClinVar

NM_000059.4(BRCA2):c.8350C>T (p.Arg2784Trp)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

13q13.1

Genomic location:

• Chr13: 32370420 (on Assembly GRCh38)
• Chr13: 32944557 (on Assembly GRCh37)

Preferred name:

NM_000059.4(BRCA2):c.8350C>T (p.Arg2784Trp)

HGVS:

• NC_000013.11:g.32370420C>T
• NG_012772.3:g.59941C>T
• NM_000059.4:c.8350C>TMANE SELECT
• NP_000050.2:p.Arg2784Trp
• NP_000050.3:p.Arg2784Trp
• LRG_293t1:c.8350C>T
• LRG_293:g.59941C>T
• LRG_293p1:p.Arg2784Trp
• NC_000013.10:g.32944557C>T
• NM_000059.3:c.8350C>T
• U43746.1:n.8578C>T
• p.Arg2784Trp
• p.R2784W

This HGVS expression did not pass validation

Nucleotide change:

8578C>T

Protein change:

R2784W

Links:

dbSNP: rs80359075

NCBI 1000 Genomes Browser:

rs80359075

Molecular consequence:

• NM_000059.4:c.8350C>T - missense variant - [Sequence Ontology: SO:0001583]