ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6600_6601del (p.Phe2200_Ser2201insTer) (rs80359607)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000162932 SCV000213419 pathogenic Hereditary cancer-predisposing syndrome 2017-07-10 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)
Breast Cancer Information Core (BIC) (BRCA2) RCV000113611 SCV000146888 pathogenic Breast-ovarian cancer, familial 2 2004-02-20 no assertion criteria provided clinical testing
Color RCV000162932 SCV000688989 pathogenic Hereditary cancer-predisposing syndrome 2016-05-17 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000113611 SCV000327472 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000113611 SCV000301072 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
GeneDx RCV000485787 SCV000566170 pathogenic not provided 2018-09-24 criteria provided, single submitter clinical testing This deletion of two nucleotides is denoted BRCA2 c.6600_6601delTT at the cDNA level and p.Ser2201Ter (S2201X) at the protein level. The normal sequence, with the bases that are deleted in brackets, is CTTT[delTT]CTGA. The deletion creates a nonsense variant, which changes a Serine to a premature stop codon. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. BRCA2 c.6600_6601delTT, previously published as BRCA2 6828delTT using alternate nomenclature, has been reported in association with Hereditary Breast and Ovarian Cancer syndrome (Haffty 2009, Kim 2012, Konstantopoulou 2014). This variant is considered pathogenic.
Genologica Medica RCV000113611 SCV000577966 pathogenic Breast-ovarian cancer, familial 2 2017-01-01 criteria provided, single submitter clinical testing
Invitae RCV000044990 SCV000073003 pathogenic Hereditary breast and ovarian cancer syndrome 2018-10-31 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser2201*) 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 an individual affected with early onset breast cancer (PMID: 19491284). This variant is also known as 6828delTT in the literature. ClinVar contains an entry for this variant (Variation ID: 52131). Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
Sharing Clinical Reports Project (SCRP) RCV000113611 SCV000297546 pathogenic Breast-ovarian cancer, familial 2 2010-12-22 no assertion criteria provided clinical testing

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