ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.5353C>T (p.Gln1785Ter) (rs80356969)

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Total submissions: 12
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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) RCV000077618 SCV000300248 pathogenic Breast-ovarian cancer, familial 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Invitae RCV000048955 SCV000076968 pathogenic Hereditary breast and ovarian cancer syndrome 2018-07-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1785*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. This variant has been reported in individuals and families with hereditary breast and/or ovarian cancer (PMID: 16683254, 17925560, 27157322). It is also known as 5472C>T in the literature. ClinVar contains an entry for this variant (Variation ID: 55546). Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV000223567 SCV000277021 pathogenic Hereditary cancer-predisposing syndrome 2016-12-16 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
GeneDx RCV000236216 SCV000293457 pathogenic not provided 2016-02-02 criteria provided, single submitter clinical testing This variant is denoted BRCA1 c.5353C>T at the cDNA level and p.Gln1785Ter (Q1785X) at the protein level. The substitution creates a nonsense variant, which changes a Glutamine to a premature stop codon (CAG>TAG), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant, also denoted BRCA1 5472C>T using alternate nomenclature, has been reported in association with hereditary breast and/or ovarian cancer (van der Hout 2006, Vogel 2007, Kwong 2016) and is considered pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000236216 SCV000296349 pathogenic not provided 2015-06-25 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000077618 SCV000326290 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000048955 SCV000591620 pathogenic Hereditary breast and ovarian cancer syndrome criteria provided, single submitter clinical testing
Color RCV000223567 SCV000683303 pathogenic Hereditary cancer-predisposing syndrome 2016-10-31 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000077618 SCV000744586 pathogenic Breast-ovarian cancer, familial 1 2015-09-21 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077618 SCV000109421 pathogenic Breast-ovarian cancer, familial 1 2012-05-23 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000077618 SCV000145478 pathogenic Breast-ovarian cancer, familial 1 1998-06-26 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000077618 SCV000733588 pathogenic Breast-ovarian cancer, familial 1 no assertion criteria provided clinical testing

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