Variant #0000073938 (NC_000017.10:g.(?_41196312)_(41277500_?)del, BRCA1(NM_007294.3):c.-232_*1383{0})
Individual ID |
00046309 |
Chromosome |
17 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Affects function |
Classification method |
kConFab |
Clinical classification |
likely pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.(?_41196312)_(41277500_?)del |
DNA change (hg38) |
- |
Published as |
del exons 1_23 |
ISCN |
- |
DB-ID |
BRCA1_002986 See all 2 reported entries |
Variant remarks |
- |
Reference |
kConFab variant classification: LGR |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
4/1658 |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
kConFab - Heather Thorne |
Database submission license |
Creative Commons Attribution 4.0 International |
Created by |
Julia Lopez |

Variant on transcripts
Screenings
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