ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.3706_3713del (p.Asn1236fs) (rs80357552)

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Total submissions: 6
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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) RCV000112158 SCV000299999 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 RCV000509675 SCV000607972 pathogenic Hereditary cancer-predisposing syndrome 2017-12-05 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 RCV000657206 SCV000778932 pathogenic not provided 2018-10-16 criteria provided, single submitter clinical testing This deletion of eight nucleotides in BRCA1 is denoted c.3706_3713delAATATACC at the cDNA level and p.Asn1236PhefsX5 (N1236FfsX5) at the protein level. The normal sequence, with the bases that are deleted in brackets, is AAAC[delAATATACC]TTCT. The deletion causes a frameshift which changes an Asparagine to a Phenylalanine at codon 1236, and creates a premature stop codon at position 5 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.3706_3713delAATATACC, also published as BRCA1 3825del8 using alternate nomenclature, has been reported in at least one individual with early-onset breast cancer (Haffty 2009). We consider this variant to be pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000657206 SCV000887676 pathogenic not provided 2018-01-15 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000112158 SCV000144841 pathogenic Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496875 SCV000587334 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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