Variant #0000514483 (NC_000002.11:g.215657198del, NC_000002.11(NM_000465.2):c.216-14del (BARD1))
Chromosome |
2 |
Allele |
Unknown |
Affects function (as reported) |
Does not affect function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
benign |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.215657198del |
DNA change (hg38) |
g.214792474del |
Published as |
BARD1(NM_000465.2):c.216-14del (p.(=)), BARD1(NM_000465.4):c.216-14delT |
ISCN |
- |
DB-ID |
BARD1_000017 See all 4 reported entries |
Variant remarks |
VKGL data sharing initiative Nederland |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
CLASSIFICATION record |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
VKGL-NL_Leiden |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
VKGL-NL_Leiden |
Date created |
2019-07-18 18:22:55 +02:00 (CEST) |
Date last edited |
2025-02-07 18:57:27 +01:00 (CET) |

Variant on transcripts
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