ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.2766del (p.Val923fs) (rs80357812)

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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) RCV000083189 SCV000299831 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 RCV000047965 SCV000075978 pathogenic Hereditary breast and ovarian cancer syndrome 2018-05-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val923Leufs*77) 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 observed in individuals affected with breast cancer (PMID: 10951344, 22333603, 26221963). ClinVar contains an entry for this variant (Variation ID: 54677). Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
Michigan Medical Genetics Laboratories,University of Michigan RCV000083189 SCV000195911 pathogenic Breast-ovarian cancer, familial 1 2014-11-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV000213211 SCV000275639 pathogenic Hereditary cancer-predisposing syndrome 2015-05-06 criteria provided, single submitter clinical testing
GeneDx RCV000236621 SCV000293469 pathogenic not provided 2017-11-15 criteria provided, single submitter clinical testing This deletion of one nucleotide in BRCA1 is denoted c.2766delA at the cDNA level and p.Val923LeufsX77 (V923LfsX77) at the protein level. The normal sequence, with the base that is deleted in brackets, is AGAC[delA]GTTA. The deletion causes a frameshift, which changes a Valine to a Leucine at codon 923, and creates a premature stop codon at position 77 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 c.2766delA, also published as BRCA1 2885delA using alternate nomenclature, has been reported in individuals with early-onset breast cancer (Ho 2000, Robertson 2012, Wong 2015, Donenberg 2016). We consider this variant to be pathogenic.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000083189 SCV000325460 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000047965 SCV000591410 pathogenic Hereditary breast and ovarian cancer syndrome 2014-08-08 criteria provided, single submitter clinical testing
Color RCV000213211 SCV000683061 pathogenic Hereditary cancer-predisposing syndrome 2016-05-23 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000083189 SCV000744646 pathogenic Breast-ovarian cancer, familial 1 2015-09-21 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000083189 SCV000115263 pathogenic Breast-ovarian cancer, familial 1 2012-05-01 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000083189 SCV000144541 pathogenic Breast-ovarian cancer, familial 1 1999-06-22 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000083189 SCV000733635 pathogenic Breast-ovarian cancer, familial 1 no assertion criteria provided clinical testing

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