ClinVar

NM_000059.4(BRCA2):c.6347A>T (p.His2116Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

13q13.1

Genomic location:

• Chr13: 32340702 (on Assembly GRCh38)
• Chr13: 32914839 (on Assembly GRCh37)

Preferred name:

NM_000059.4(BRCA2):c.6347A>T (p.His2116Leu)

HGVS:

• NC_000013.11:g.32340702A>T
• NG_012772.3:g.30223A>T
• NM_000059.4:c.6347A>TMANE SELECT
• NP_000050.2:p.His2116Leu
• NP_000050.3:p.His2116Leu
• LRG_293t1:c.6347A>T
• LRG_293:g.30223A>T
• LRG_293p1:p.His2116Leu
• NC_000013.10:g.32914839A>T
• NM_000059.3:c.6347A>T

This HGVS expression did not pass validation

Protein change:

H2116L

Links:

dbSNP: rs55953736

NCBI 1000 Genomes Browser:

rs55953736

Molecular consequence:

• NM_000059.4:c.6347A>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

2