ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.1898del (p.Pro633fs)

dbSNP: rs80357851
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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) RCV000111727 SCV000299665 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.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000111727 SCV000325169 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2015-10-02 criteria provided, single submitter clinical testing
Invitae RCV001382660 SCV001581554 pathogenic Hereditary breast ovarian cancer syndrome 2023-11-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro633Hisfs*18) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with BRCA1-related conditions (PMID: 10923033, 21520333). ClinVar contains an entry for this variant (Variation ID: 54388). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV002408554 SCV002722570 pathogenic Hereditary cancer-predisposing syndrome 2017-01-19 criteria provided, single submitter clinical testing The c.1898delC pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 1898, causing a translational frameshift with a predicted alternate stop codon (p.P633Hfs*18). 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.
Breast Cancer Information Core (BIC) (BRCA1) RCV000111727 SCV000144240 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2002-05-29 no assertion criteria provided clinical testing

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