ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2314del (p.Val772fs)

dbSNP: rs80357957
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Total submissions: 5
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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) RCV000111823 SCV000299744 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 RCV000132319 SCV000187405 pathogenic Hereditary cancer-predisposing syndrome 2022-03-24 criteria provided, single submitter clinical testing The c.2314delG pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 2314, causing a translational frameshift with a predicted alternate stop codon (p.V772Yfs*20). 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.
Invitae RCV001383182 SCV001582252 pathogenic Hereditary breast ovarian cancer syndrome 2021-01-03 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Val772Tyrfs*20) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. This variant has been reported in an individual affected with breast cancer (PMID: 20104584). ClinVar contains an entry for this variant (Variation ID: 54532). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584).
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001800356 SCV002046693 pathogenic not provided 2021-03-08 criteria provided, single submitter clinical testing This frameshift variant causes the premature termination of BRCA1 protein synthesis. In addition, it has been reported in an individual affected with breast cancer in the published literature (PMID: 20104584 (2010)). This variant has not been reported in large, multi-ethnic general populations. Therefore, the variant is classified as pathogenic.
Breast Cancer Information Core (BIC) (BRCA1) RCV000111823 SCV000144377 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2004-11-25 no assertion criteria provided clinical testing

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