ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.2435del (p.Asn812fs) (rs80359329)

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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) RCV000113042 SCV000300518 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Ambry Genetics RCV000131948 SCV000187005 pathogenic Hereditary cancer-predisposing syndrome 2019-03-20 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000113042 SCV000326703 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
GeneDx RCV000486319 SCV000566033 pathogenic not provided 2015-03-26 criteria provided, single submitter clinical testing This deletion of one nucleotide in BRCA2 is denoted c.2435delA at the cDNA level and p.Asn812IlefsX13 (N812IfsX13) at the protein level. The normal sequence, with the base that is deleted in brackets, is CAAAA[A]TATT. The deletion causes a frameshift, which changes an Asparagine to an Isoleucine at codon 812, and creates a premature stop codon at position 13 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. BRCA2 c.2435delA, previously reported as 2663delA, has been reported in at least one individual with Hereditary Breast and Ovarian Cancer syndrome (Marroni 2004). we consider this variant to be pathogenic.
GeneKor MSA RCV000486319 SCV000693560 pathogenic not provided 2017-11-01 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113042 SCV000146047 pathogenic Breast-ovarian cancer, familial 2 1999-06-22 no assertion criteria provided clinical testing

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