ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5164_5165del (p.Ser1722fs) (rs80359490)

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Total submissions: 10
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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) RCV000077346 SCV000300838 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Invitae RCV000044579 SCV000072592 pathogenic Hereditary breast and ovarian cancer syndrome 2018-11-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser1722Tyrfs*4) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals affected with breast and/or ovarian cancer (PMID: 9150154, 19353265, 22160602, 27157322, 26848529, 24321281). This variant is also known as 5392delAG and 5392-5393delAG in the literature. ClinVar contains an entry for this variant (Variation ID: 51791). Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
Counsyl RCV000077346 SCV000220974 pathogenic Breast-ovarian cancer, familial 2 2014-12-22 criteria provided, single submitter literature only
Ambry Genetics RCV000216136 SCV000273839 pathogenic Hereditary cancer-predisposing syndrome 2017-12-18 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 RCV000077346 SCV000296557 pathogenic Breast-ovarian cancer, familial 2 2016-03-26 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000077346 SCV000327153 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
GeneDx RCV000482731 SCV000568471 pathogenic not provided 2018-10-29 criteria provided, single submitter clinical testing This deletion of 2 nucleotides in BRCA2 is denoted c.5164_5165delAG at the cDNA level and p.Ser1722TyrfsX4 (S1722YfsX4) at the protein level. The normal sequence, with the bases that are deleted in braces, is AAAC[AG]TACT. The deletion causes a frameshift which changes a Serine to a Tyrosine at codon 1722, and creates a premature stop codon at position 4 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.5164_5165delAG, also denoted BRCA2 5392_5394delAG using alternate nomenclature, has been reported in association with breast and/or ovarian cancer (Hakansson 1997, Kwong 2009, Schneegans 2012, Li 2013, Ng 2016). We consider this variant to be pathogenic.
Color RCV000216136 SCV000683680 pathogenic Hereditary cancer-predisposing syndrome 2015-04-10 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077346 SCV000109143 pathogenic Breast-ovarian cancer, familial 2 2012-09-27 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000077346 SCV000146553 pathogenic Breast-ovarian cancer, familial 2 1997-11-13 no assertion criteria provided clinical testing

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