ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2823del (p.Asn941fs)

dbSNP: rs886040075
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Total submissions: 3
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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) RCV000256599 SCV000323520 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 RCV000256599 SCV000325471 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2015-10-02 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000506918 SCV000605757 pathogenic Hereditary breast ovarian cancer syndrome 2017-01-11 criteria provided, single submitter clinical testing The p.Asn941fs variant in BRCA1 has not been previously reported in individuals with hereditary breast and ovarian cancer (HBOC) and was absent from large popul ation studies. This variant is predicted to cause a frameshift, which alters the protein?s amino acid sequence beginning at position 941 and leads to a prematur e termination codon 59 amino acids downstream. This alteration is then predicted to lead to a truncated or absent protein. Heterozygous loss of function of the BRCA1 gene is an established disease mechanism in HBOC. In addition, this varian t was classified as Pathogenic on October 2, 2015 by the ClinGen-approved ENIGMA expert panel (ClinVar SCV000325471.3). In summary, this variant meets criteria to be classified as pathogenic for HBOC in an autosomal dominant manner.

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