ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3359_3360del (p.Val1120fs)

dbSNP: rs80357843
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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) RCV000077544 SCV000299932 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 RCV000220196 SCV000278775 pathogenic Hereditary cancer-predisposing syndrome 2022-09-26 criteria provided, single submitter clinical testing The c.3359_3360delTT pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of two nucleotides at nucleotide positions 3359 and 3360, causing a translational frameshift with a predicted alternate stop codon. This alteration has been identified in multiple families with hereditary breast and/or ovarian cancer, primarily of Spanish descent (Miramar MD, et al. Breast Cancer Res. Treat. 2008 Nov; 112(2):353-8; de Juan Jimenez I et al. Fam. Cancer 2013 Dec;12(4):767-77; Rebbeck TR et al. Hum. Mutat. 2018 05;39(5):593-620). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000077544 SCV000325631 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2015-10-02 criteria provided, single submitter clinical testing
Invitae RCV001389430 SCV001590797 pathogenic Hereditary breast ovarian cancer syndrome 2023-04-04 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with hereditary breast and ovarian cancer (PMID: 18176857, 22426013, 23479189). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 54856). This variant is also known as 3478_3479delTT. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Val1120Glufs*12) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584).
Sharing Clinical Reports Project (SCRP) RCV000077544 SCV000109345 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2008-06-17 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000077544 SCV000144738 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2004-02-20 no assertion criteria provided clinical testing

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