Variant details: 2 215634012 G/C (GRCH37)
| GRCH37 genomic region | 2:215634012-215634012 |
|---|---|
| GRCH38 genomic region | 2:214769288-214769288 |
| Gene(s) | BARD1 (- strand) |
| HGVSc | c.1339C>G (NM_000465.4 ) |
| HGVSp | p.(Leu447Val) |
| Reference sequence | ATCACTTCCATTTTGTAAAAGGTATTCAACAGAAGGTATGT |
| Non-cancer gnomAD AF | 0.0000633553 0.0000633553 |
| Custom-max gnomAD AF | 0.000134228 |
| Existing variants | rs376727038,COSV53611469 |
| PubMed | 25741868 |
| Synonyms | ClinVar::RCV000656772,RCV000159815,VCV000182046,RCV000230416,RCV000212127 COSMIC::COSM1691960 |
| Expert group classification | |
| ClinVar classification |
Conflicting classifications of pathogenicity
criteria provided, conflicting classifications
|
| Laboratory classification |
Allele frequencies
Individuals carrying the variant
This variant was found in .. individuals:
Transcripts