ClinVar

NM_000059.4(BRCA2):c.8997G>A (p.Leu2999=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

13q13.1

Genomic location:

• Chr13: 32379793 (on Assembly GRCh38)
• Chr13: 32953930 (on Assembly GRCh37)

Preferred name:

NM_000059.4(BRCA2):c.8997G>A (p.Leu2999=)

Other names:

L2999L

HGVS:

• NC_000013.11:g.32379793G>A
• NG_012772.3:g.69314G>A
• NM_000059.4:c.8997G>AMANE SELECT
• NP_000050.2:p.Leu2999=
• NP_000050.3:p.Leu2999=
• LRG_293t1:c.8997G>A
• LRG_293:g.69314G>A
• LRG_293p1:p.Leu2999=
• NC_000013.10:g.32953930G>A
• NM_000059.3:c.8997G>A
• U43746.1:n.9225G>A
• p.L2999L

This HGVS expression did not pass validation

Links:

dbSNP: rs80359804

NCBI 1000 Genomes Browser:

rs80359804

Molecular consequence:

• NM_000059.4:c.8997G>A - synonymous variant - [Sequence Ontology: SO:0001819]