ClinVar

NM_000059.4(BRCA2):c.8149G>T (p.Ala2717Ser)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

13q13.1

Genomic location:

• Chr13: 32363351 (on Assembly GRCh38)
• Chr13: 32937488 (on Assembly GRCh37)

Preferred name:

NM_000059.4(BRCA2):c.8149G>T (p.Ala2717Ser)

Other names:

p.A2717S:GCC>TCC; NP_000050.3:p.Ala2717Ser; NM_000059.4(BRCA2):c.8149G>T

HGVS:

• NC_000013.11:g.32363351G>T
• NG_012772.3:g.52872G>T
• NM_000059.4:c.8149G>TMANE SELECT
• NP_000050.2:p.Ala2717Ser
• NP_000050.3:p.Ala2717Ser
• LRG_293t1:c.8149G>T
• LRG_293:g.52872G>T
• LRG_293p1:p.Ala2717Ser
• NC_000013.10:g.32937488G>T
• NM_000059.3:c.8149G>T
• NM_000059.4:c.8149G>T
• U43746.1:n.8377G>T
• p.A2717S

This HGVS expression did not pass validation

Nucleotide change:

8377G>T

Protein change:

A2717S

Links:

dbSNP: rs28897747

NCBI 1000 Genomes Browser:

rs28897747

Molecular consequence:

• NM_000059.4:c.8149G>T - missense variant - [Sequence Ontology: SO:0001583]