ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.3029_3030del (p.Pro1010fs) (rs80357510)

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Total submissions: 9
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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) RCV000077536 SCV000299876 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 RCV000048053 SCV000076066 pathogenic Hereditary breast and ovarian cancer syndrome 2018-09-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro1010Argfs*7) 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 been reported in individuals affected with breast cancer (PMID: 18159056, 20104584). This variant is also known as 3148delCT in the literature. ClinVar contains an entry for this variant (Variation ID: 54757). 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 RCV000131906 SCV000186961 pathogenic Hereditary cancer-predisposing syndrome 2017-09-11 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 RCV000235127 SCV000210032 pathogenic not provided 2018-07-05 criteria provided, single submitter clinical testing This deletion of two nucleotides in BRCA1 is denoted c.3029_3030delCT at the cDNA level and p.Pro1010ArgfsX7 (P1010RfsX7) at the protein level. The normal sequence, with the bases that are deleted in brackets, is TCAC[delCT]GAAA. The deletion causes a frameshift, which changes a Proline to an Arginine at codon 1010, and creates a premature stop codon at position 7 of the new reading frame. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. BRCA1 3029_3030delCT, previously reported as 3148delCT using alternate nomenclature, is described as a recurrent pathogenic variant in the Hispanic population and has been observed in multiple individuals with breast cancer, including one woman with breast cancer whose tumor studies revealed loss of heterozygosity suggesting this variant may have been involved in tumorigenesis (John 2007, Hall 2009, Borg 2010, Tung 2010, Duncan 2011, Nahleh 2015). We consider this variant to be pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000235127 SCV000296364 pathogenic not provided 2015-07-11 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000077536 SCV000325539 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Counsyl RCV000077536 SCV000489515 pathogenic Breast-ovarian cancer, familial 1 2016-10-18 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077536 SCV000109337 pathogenic Breast-ovarian cancer, familial 1 2012-05-01 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000077536 SCV000144615 pathogenic Breast-ovarian cancer, familial 1 2004-02-20 no assertion criteria provided clinical testing

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