ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5631del (p.Asn1877fs) (rs397507357)

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Total submissions: 7
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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) RCV000031562 SCV000300909 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 RCV000166635 SCV000217439 pathogenic Hereditary cancer-predisposing syndrome 2017-03-08 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)
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000505842 SCV000296614 pathogenic not provided 2015-11-18 criteria provided, single submitter clinical testing
Counsyl RCV000031562 SCV000488147 likely pathogenic Breast-ovarian cancer, familial 2 2016-02-19 criteria provided, single submitter clinical testing
Color RCV000166635 SCV000688935 pathogenic Hereditary cancer-predisposing syndrome 2017-04-04 criteria provided, single submitter clinical testing
GeneDx RCV000505842 SCV000778883 pathogenic not provided 2018-05-01 criteria provided, single submitter clinical testing This deletion of one nucleotide in BRCA2 is denoted c.5631delC at the cDNA level and p.Asn1877LysfsX32 (N1877KfsX32) at the protein level. The normal sequence, with the base that is deleted in brackets, is GAAAA[delC]AACG. The deletion causes a frameshift which changes an Asparagine to a Lysine at codon 1877, and creates a premature stop codon at position 32 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.5631delC, previously reported as 5859delC, has been observed in a woman with a personal history of breast cancer (Torres-Mejia 2015) . We consider this variant to be pathogenic.
Sharing Clinical Reports Project (SCRP) RCV000031562 SCV000054167 pathogenic Breast-ovarian cancer, familial 2 2010-09-14 no assertion criteria provided clinical testing

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