ClinVar Genomic variation as it relates to human health
NM_000059.4(BRCA2):c.8354C>T (p.Pro2785Leu)
Germline
Classification
(6)
Conflicting classifications of pathogenicity
Likely pathogenic(1); Uncertain significance(4); Likely benign(1)
Likely pathogenic(1); Uncertain significance(4); Likely benign(1)
criteria provided, conflicting classifications
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
BRCA2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
18951 | 19110 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Jan 18, 2022 | RCV000164641.5 | |
Uncertain significance (1) |
|
Nov 24, 2015 | RCV000412223.2 | |
Uncertain significance (1) |
|
Nov 19, 2023 | RCV000821790.7 | |
Uncertain significance (1) |
|
May 10, 2019 | RCV000779934.2 | |
Likely pathogenic (1) |
|
Jan 1, 2022 | RCV003153442.2 | |
Uncertain significance (1) |
|
Feb 21, 2024 | RCV003474862.2 |
Citations for germline classification of this variant
HelpText-mined citations for rs786202034 ...
HelpThese citations are identified by LitVar using
the rs number, so they may include citations for more than one variant
at this location. Please review the LitVar results carefully for your
variant of interest.
Record last updated Sep 29, 2024