ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2001dup (p.Leu668fs)

dbSNP: rs80357521
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Total submissions: 6
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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) RCV000083024 SCV000299683 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Ambry Genetics RCV000220934 SCV000276010 pathogenic Hereditary cancer-predisposing syndrome 2015-05-27 criteria provided, single submitter clinical testing The c.2001dupA (also known as c.2120dupA and p.Q667QFS*6) pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a duplication of A at nucleotide position 2001, causing a translational frameshift with a predicted alternate stop codon. Since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000083024 SCV000325210 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2015-10-02 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000590409 SCV000698906 pathogenic Hereditary breast ovarian cancer syndrome 2016-02-12 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000083024 SCV000115098 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2012-05-01 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000083024 SCV000144271 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2004-02-20 no assertion criteria provided clinical testing

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