ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2706_2707dup (p.Cys903fs) (rs80357717)

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Total submissions: 10
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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) RCV000031064 SCV000299816 pathogenic Breast-ovarian cancer, familial 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Ambry Genetics RCV000132203 SCV000187285 pathogenic Hereditary cancer-predisposing syndrome 2018-11-01 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000031064 SCV000296275 pathogenic Breast-ovarian cancer, familial 1 2015-09-02 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000031064 SCV000325439 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Invitae RCV000459878 SCV000549364 pathogenic Hereditary breast and ovarian cancer syndrome 2019-10-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys903Tyrfs*98) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BRCA1-related disease. ClinVar contains an entry for this variant (Variation ID: 37483). Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000479257 SCV000567213 pathogenic not provided 2017-09-21 criteria provided, single submitter clinical testing The BRCA1 c.2706_2707dupAT duplication causes a frameshift, which changes a Cysteine to a Tyrosine at codon903 in exon 10, and creates a premature stop codon at position 98 of the new reading frame. Although this variant has not, to our knowledge, been reported in the literature, it is predicted to cause loss of normal protein functionthrough either protein truncation or nonsense-mediated mRNA decay. We consider this variant to be pathogenic.
Counsyl RCV000031064 SCV000677646 likely pathogenic Breast-ovarian cancer, familial 1 2015-06-03 criteria provided, single submitter clinical testing
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego RCV000031064 SCV000996213 pathogenic Breast-ovarian cancer, familial 1 2018-11-19 criteria provided, single submitter clinical testing This frameshifting variant in exon 10 of 24 introduces a premature stop codon and is therefore predicted to result in loss of normal protein function. This variant is reported as a pathogenic variant in a single publication (PMID: 28152038) and multiple clinical diagnostic laboratories in ClinVar have classified this variant as a pathogenic change for hereditary breast and ovarian cancer syndrome (Variation ID: 37483). It is present in the heterozygous state in the gnomAD population database at a frequency of 0.0008% (2/250830) and thus is presumed to be rare. Based on the available evidence, the c.2706_2707dup (p.Cys903TyrfsTer98) variant is classified as pathogenic.
Sharing Clinical Reports Project (SCRP) RCV000031064 SCV000053660 pathogenic Breast-ovarian cancer, familial 1 2010-03-31 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000031064 SCV000144518 pathogenic Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing

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