ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.37_40del (p.Asn13fs) (rs80357530)

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Total submissions: 5
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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) RCV000111621 SCV000299392 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 RCV000162865 SCV000213352 pathogenic Hereditary cancer-predisposing syndrome 2014-12-25 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 RCV000518958 SCV000618486 pathogenic not provided 2017-11-28 criteria provided, single submitter clinical testing This deletion of four nucleotides in BRCA1 is denoted c.37_40delAATG at the cDNA level and p.Asn13SerfsX9 (N13SfsX9) at the protein level. The normal sequence, with the bases that are deleted in brackets, is ACAA[delAATG]TCAT. The deletion causes a frameshift which changes an Asparagine to a Serine at codon 13, and creates a premature stop codon at position 9 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.37_40delAATG, also denoted156del4 using alternate nomenclature, has been reported in association with hereditary breast and ovarian cancer (Judkins 2005). We consider this variant to be pathogenic.
Breast Cancer Information Core (BIC) (BRCA1) RCV000111621 SCV000144100 pathogenic Breast-ovarian cancer, familial 1 2004-11-25 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496942 SCV000587002 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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