Variant #0000196792 (NC_000017.10:g.41215344A>T, NC_000017.10(NM_007294.3):c.5193+6T>A (BRCA1))
Individual ID |
00121537 |
Chromosome |
17 |
Allele |
Unknown |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
VUS |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.41215344A>T |
DNA change (hg38) |
g.43063327A>T |
Published as |
- |
ISCN |
- |
DB-ID |
BRCA1_004610 See all 4 reported entries |
Variant remarks |
- |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
3/1900 cases |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
CEMIC - Genotyping - Angela Solano |
Database submission license |
Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International |
Created by |
CEMIC - Genotyping - Angela Solano |
Date created |
2017-07-21 18:07:10 +02:00 (CEST) |
Date last edited |
2025-03-15 18:30:50 +01:00 (CET) |

Variant on transcripts
Screenings
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