ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.1444_1447del (p.Leu481_Ile482insTer) (rs80357801)

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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) RCV000030994 SCV000299601 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 RCV000047476 SCV000075489 pathogenic Hereditary breast and ovarian cancer syndrome 2015-02-10 criteria provided, single submitter clinical testing This sequence change deletes 4 nucleotides from exon 10 of the BRCA1 mRNA (c.1444_1447delATTA), causing a frameshift at codon 482. This creates a premature translational stop signal (p.Ile482*) and is expected to result in an absent or disrupted protein product. This variant has been reported in the literature and is not currently found in any individuals from the population databases (rs80357801, no frequency). This variant has been reported in an individual with breast cancer (PMID: 9510469). ClinVar contains an entry for this variant (RCV000030994). For these reasons, this variant has been classified as Pathogenic.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000030994 SCV000325072 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000564832 SCV000660939 pathogenic Hereditary cancer-predisposing syndrome 2016-12-27 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)
Counsyl RCV000030994 SCV000677637 pathogenic Breast-ovarian cancer, familial 1 2017-05-12 criteria provided, single submitter clinical testing
Color RCV000564832 SCV000905036 pathogenic Hereditary cancer-predisposing syndrome 2015-06-11 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000030994 SCV000053586 pathogenic Breast-ovarian cancer, familial 1 2006-11-15 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000030994 SCV000144095 pathogenic Breast-ovarian cancer, familial 1 1999-12-30 no assertion criteria provided clinical testing

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