ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.2866_2870del (p.Ser956fs) (rs80357819)

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Total submissions: 9
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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) RCV000111951 SCV000282293 pathogenic Breast-ovarian cancer, familial 1 2016-04-22 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Invitae RCV000195360 SCV000076006 pathogenic Hereditary breast and ovarian cancer syndrome 2018-07-13 criteria provided, single submitter clinical testing This sequence change deletes 5 nucleotides from exon 10 of the BRCA1 mRNA (c.2866_2870delTCTCA), causing a frameshift at codon 956. This creates a premature translational stop signal (p.Ser956Valfs*13) and is expected to result in an absent or disrupted protein product. Truncating variants in BRCA1 are known to be pathogenic. This particular truncation has been reported in the literature in individuals affected with breast cancer and ovarian cancer (PMID: 7837387, 15146557). This variant is also known as 2982del5 and and 2985del5 in the literature. For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000047993 SCV000209882 pathogenic not provided 2019-01-11 criteria provided, single submitter clinical testing This deletion of 5 nucleotides in BRCA1 is denoted c.2866_2870delTCTCA at the cDNA level and p.Ser956ValfsX13 (S956VfsX13) at the protein level. The normal sequence, with the bases that are deleted in braces, is ATCA[TCTCA]GTTC. The deletion causes a frameshift, which changes a Serine to a Valine at codon 956, and creates a premature stop codon at position 13 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.2866_2870delTCTCA, previously reported as 2982del5 and 2985del5, has been observed in association with breast and ovarian cancer (Shattuck-Eidens 1995, Gorski 2004). We consider this variant to be pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000111951 SCV000296455 pathogenic Breast-ovarian cancer, familial 1 2016-04-22 criteria provided, single submitter clinical testing
GeneKor MSA RCV000239021 SCV000296793 pathogenic Familial cancer of breast 2016-07-01 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000111951 SCV000325483 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000567133 SCV000660942 pathogenic Hereditary cancer-predisposing syndrome 2017-04-17 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)
Color RCV000567133 SCV000683066 pathogenic Hereditary cancer-predisposing syndrome 2015-04-15 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000111951 SCV000144564 pathogenic Breast-ovarian cancer, familial 1 2014-01-07 no assertion criteria provided clinical testing

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