ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.2727_2730del (p.Asn909fs) (rs80357605)

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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) RCV000083188 SCV000299824 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 RCV000047948 SCV000075961 pathogenic Hereditary breast and ovarian cancer syndrome 2015-08-16 criteria provided, single submitter clinical testing This sequence change deletes 4 nucleotides in exon 10 of the BRCA1 mRNA (c.2727_2730delTCAA), causing a frameshift at codon 909. This creates a premature translational stop signal (p.Asn909Lysfs*90) 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 families with breast and ovarian cancer (PMID: 8968102, 16683254, 22762150). This variant is also known as 2846delTCAA in the literature. For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV000162859 SCV000213346 pathogenic Hereditary cancer-predisposing syndrome 2018-02-23 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)
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000083188 SCV000325450 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Department of Medical Genetics,Oslo University Hospital RCV000083188 SCV000564301 pathogenic Breast-ovarian cancer, familial 1 2015-07-01 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000083188 SCV000115262 pathogenic Breast-ovarian cancer, familial 1 2012-05-01 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000083188 SCV000144528 pathogenic Breast-ovarian cancer, familial 1 1999-06-22 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000047948 SCV000587252 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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