ClinVar Miner

Submissions for variant NM_007298.3(BRCA1):c.787+1303del (rs886039996)

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Total submissions: 2
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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) RCV000661110 SCV000783358 pathogenic Breast-ovarian cancer, familial 1 2017-12-15 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000508022 SCV000605758 pathogenic Hereditary breast and ovarian cancer syndrome 2017-01-11 criteria provided, single submitter clinical testing The p.Phe697fs 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 697 and leads to a prematur e termination codon 4 amino acids downstream. This alteration is then predicted to lead to a truncated or absent protein. Heterozygous loss of function of funct ion of the BRCA1 gene is an established disease mechanism in HBOC. In summary, t his variant meets criteria to be classified as pathogenic for HBOC in an autosom al dominant manner.

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