ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2210_2211del (p.Thr737fs) (rs80357654)

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Total submissions: 8
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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) RCV000031037 SCV000299721 pathogenic Breast-ovarian cancer, familial 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Invitae RCV000047759 SCV000075772 pathogenic Hereditary breast and ovarian cancer syndrome 2016-11-21 criteria provided, single submitter clinical testing This sequence change deletes 2 nucleotides from exon 10 of the BRCA1 mRNA (c.2210_2211delCA), causing a frameshift at codon 737. This creates a premature translational stop signal (p.Thr737Serfs*2) and is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic. This particular variant has been reported in the literature in an individual affected with breast and ovarian cancer (PMID: 9667259). It is also known as 2329delCA. For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV000131875 SCV000186930 pathogenic Hereditary cancer-predisposing syndrome 2014-02-11 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
GeneDx RCV000236097 SCV000293471 pathogenic not provided 2018-02-21 criteria provided, single submitter clinical testing This deletion of 2 nucleotides in BRCA1 is denoted c.2210_2211delCA at the cDNA level and p.Thr737SerfsX2(T737SfsX2) at the protein level. The normal sequence, with the bases that are deleted in braces, is GAAA[CA]GTTA. The deletion causes a frameshift, which changes a Threonine to a Serine at codon 737, and creates a premature stop codon at position 2 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. BRCA1 c.2210_2211delCA, published as c.2329delCA using alternate nomenclature, was observed in a patient with ovarian and bilateral breast cancer (Frank 1998). We consider this variant to be pathogenic.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000031037 SCV000325290 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031037 SCV000053631 pathogenic Breast-ovarian cancer, familial 1 2012-05-08 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000031037 SCV000144337 pathogenic Breast-ovarian cancer, familial 1 1997-11-14 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000047759 SCV000587199 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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