Variant details: 13 32913636 TGTA/- (GRCH37)
| GRCH37 genomic region | 13:32913636-32913639 |
|---|---|
| GRCH38 genomic region | 13:32339499-32339502 |
| Gene(s) | BRCA2 (+ strand) |
| HGVSc | c.5146_5149del (NM_000059.4 ) |
| HGVSp | p.(Tyr1716Lysfs*8) |
| Reference sequence | AGATTATGTAGGAAATTATTTGTATGAAAATAATTCAAACAGTA |
| Non-cancer gnomAD AF | 0.00000471365 0.00000471365 |
| Custom-max gnomAD AF | 0.0000357296 |
| Existing variants | rs276174854 |
| PubMed | 25741868 11857748 |
| Synonyms | ClinVar::RCV000214399,RCV000456131,RCV000044567,VCV000051779,RCV000113387 |
| Expert group classification | |
| ClinVar classification |
Pathogenic
reviewed by expert panel
|
| Laboratory classification |
Allele frequencies
Individuals carrying the variant
This variant was found in .. individuals:
Transcripts