ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.964del (p.Ala322fs) (rs273903794)

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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) RCV000077635 SCV000299515 pathogenic Breast-ovarian cancer, familial 1 2016-09-08 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 RCV000077635 SCV000326476 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
GeneDx RCV000657215 SCV000778941 pathogenic not provided 2018-02-21 criteria provided, single submitter clinical testing This deletion of one nucleotide in BRCA1 is denoted c.964delG at the cDNA level and p.Ala322LeufsX19 (A322LfsX19) at the protein level. Using alternate nomenclature, this variant would be defined as BRCA1 1083delG. The normal sequence, with the base that is deleted in brackets, is ATGG[delG]CTGG. The deletion causes a frameshift which changes an Alanine to a Leucine at codon 322, and creates a premature stop codon at position 19 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.964delG has been observed in individuals with breast and/or ovarian cancer (Smith 2001, Kwong 2016a, Kwong 2016b). We consider this variant to be pathogenic.
Sharing Clinical Reports Project (SCRP) RCV000077635 SCV000109438 pathogenic Breast-ovarian cancer, familial 1 2008-07-25 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000077635 SCV000143968 pathogenic Breast-ovarian cancer, familial 1 2010-09-18 no assertion criteria provided clinical testing

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