ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.3612del (p.Ala1206fs) (rs80357980)

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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) RCV000031114 SCV000299974 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 RCV000219713 SCV000276754 pathogenic Hereditary cancer-predisposing syndrome 2015-06-28 criteria provided, single submitter clinical testing
GeneDx RCV000255282 SCV000321430 pathogenic not provided 2015-06-11 criteria provided, single submitter clinical testing This deletion of one nucleotide in BRCA1 is denoted c.3612delA at the cDNA level and p.Ala1206ProfsX4 (A1206PfsX4) at the protein level. The normal sequence, with the base that is deleted in braces, is GAAG[A]GGGG. The deletion causes a frameshift, which changes an Alanine to a Proline at codon 1206, and creates a premature stop codon at position 4 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.3612delA, previously reported as BRCA1 3731delA using alternate nomenclature, has been reported in association with breast and ovarian cancer (Stoppa-Lyonnet 1997, Safra 2013). we consider this variant to be pathogenic.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000031114 SCV000325700 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031114 SCV000053712 pathogenic Breast-ovarian cancer, familial 1 2012-05-18 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000031114 SCV000144809 pathogenic Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing

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