ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3407C>G (p.Pro1136Arg)

gnomAD frequency: 0.00021  dbSNP: rs80357329
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000165960 SCV000216717 likely benign Hereditary cancer-predisposing syndrome 2020-08-25 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000508280 SCV000600332 uncertain significance not specified 2017-01-07 criteria provided, single submitter clinical testing
Invitae RCV001522503 SCV001732064 benign Hereditary breast ovarian cancer syndrome 2024-01-11 criteria provided, single submitter clinical testing
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV000112088 SCV002584703 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 1 2022-10-05 criteria provided, single submitter clinical testing The BRCA1 c.3407C>G (p.Pro1136Arg) missense change has a maximum subpopulation frequency of 0.064% in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/). The in silico tool REVEL is inconclusive about a pathogenic or benign effect of this variant on protein function, and to our knowledge functional studies have not been performed. This variant is absent in the FLOSSIES database which contains genetic variants from women older than 70 years of age who have never had cancer (https://whi.color.com/). To our knowledge, this variant has not been reported in individuals with hereditary breast and ovarian cancer or Fanconi anemia. In summary, the evidence currently available is insufficient to determine the clinical significance of this variant. It has therefore been classified as of uncertain significance.
University of Washington Department of Laboratory Medicine, University of Washington RCV000165960 SCV003850412 likely benign Hereditary cancer-predisposing syndrome 2023-03-23 criteria provided, single submitter curation Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673).
Breast Cancer Information Core (BIC) (BRCA1) RCV000112088 SCV000144754 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 1 1999-12-30 no assertion criteria provided clinical testing

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