ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.55C>T (p.Gln19Ter)

dbSNP: rs397509299
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000256854 SCV000323893 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2016-10-18 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000256854 SCV000326362 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2015-10-02 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001185214 SCV001351374 pathogenic Hereditary cancer-predisposing syndrome 2020-01-15 criteria provided, single submitter clinical testing This variant changes 1 nucleotide in exon 2 of the BRCA1 gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV001387016 SCV001587502 pathogenic Hereditary breast ovarian cancer syndrome 2019-11-28 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant has been observed in individual(s) with a personal and/or family history of breast and ovarian cancer (PMID: 18489799). ClinVar contains an entry for this variant (Variation ID: 55638). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln19*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product.
Molecular Endocrinology Laboratory, Christian Medical College RCV000256854 SCV002003978 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003477456 SCV004219468 pathogenic not provided 2022-01-21 criteria provided, single submitter clinical testing This nonsense variant causes the premature termination of BRCA1 protein synthesis. This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). In the published literature, this variant has been reported in an individual with personal and/or family history of breast cancer (PMID: 18489799 (2018)). It has also been reported in a large-scale screening study of BRCA1 and BRCA2 mutation carriers (PMID: 29446198 (2018). Based on the available information, this variant is classified as pathogenic.
Brotman Baty Institute, University of Washington RCV000256854 SCV001242244 not provided Breast-ovarian cancer, familial, susceptibility to, 1 no assertion provided in vitro
CZECANCA consortium RCV001270979 SCV001451785 pathogenic Breast and/or ovarian cancer 2019-06-11 no assertion criteria provided clinical testing

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