ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.4139_4140dup (p.Lys1381fs) (rs276174842)

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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) RCV000113279 SCV000300713 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 RCV000130775 SCV000185668 pathogenic Hereditary cancer-predisposing syndrome 2013-09-27 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)
GeneDx RCV000483206 SCV000566994 pathogenic not provided 2015-08-10 criteria provided, single submitter clinical testing This duplication of 2 nucleotides in BRCA2 is denoted c.4139_4140dupTT at the cDNA level and p.Lys1381LeufsX8 (K1381LfsX8) at the protein level. The normal sequence, with the bases that are duplicated in braces, is CAGA[TT]AAAG. The duplication causes a frameshift, which changes a Lysine to a Leucine at codon 1381, and creates a premature stop codon at position 8 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.4139_4140dupTT has been reported in at least one family with multiple cases of breast cancer (Levanat 2012). we consider this variant to be pathogenic.
GeneDx RCV000483206 SCV000567029 pathogenic not provided 2015-06-23 criteria provided, single submitter clinical testing This insertion of 2 nucleotides in BRCA2 is denoted c.4139_4140insTT at the cDNA level and p.Lys1381LeufsX8 (K1381LfsX8) at the protein level. The normal sequence, with the bases that are inserted in braces, is CAGAT[TT]TAAA. The insertion causes a frameshift, which changes a Lysine to a Leucine at codon 1381, and creates a premature stop codon at position 8 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.4139_4140insTT has been reported in at least one family with a multiple cases of breast cancer (Levanat 2012). we consider this variant to be pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000483206 SCV000889044 pathogenic not provided 2018-06-28 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113279 SCV000146381 pathogenic Breast-ovarian cancer, familial 2 2010-12-30 no assertion criteria provided clinical testing

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