ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.1631_1632del (p.Thr544fs) (rs80359295)

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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) RCV000112945 SCV000300448 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 RCV000213325 SCV000274531 pathogenic Hereditary cancer-predisposing syndrome 2016-09-06 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000112945 SCV000296704 pathogenic Breast-ovarian cancer, familial 2 2015-03-17 criteria provided, single submitter clinical testing
GeneDx RCV000480793 SCV000564766 pathogenic not provided 2015-01-23 criteria provided, single submitter clinical testing This deletion of 2 nucleotides in BRCA2 is denoted c.1631_1632delCT at the cDNA level and p.Thr544SerfsX15 (T544SfsX15) at the protein level. The normal sequence, with the bases that are deleted in brackets, is CATA[CT]GTTTG. Of note, This variant is also known as 1859delCT using alternate nomenclature. The deletion causes a frameshift, which changes a Threonine to a Serine at codon 544, and creates a premature stop codon at position 15 of the new reading frame. Although this variant has not, to our knowledge, been reported in the literature, it is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. we consider this variant to be pathogenic.
Color RCV000213325 SCV000911864 pathogenic Hereditary cancer-predisposing syndrome 2017-11-22 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000112945 SCV000145902 pathogenic Breast-ovarian cancer, familial 2 2001-10-29 no assertion criteria provided clinical testing

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