ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.1875del (p.Leu625_Val626insTer)

dbSNP: rs398122646
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Total submissions: 4
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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) RCV000077084 SCV000299660 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.
Invitae RCV001386572 SCV001586835 pathogenic Hereditary breast ovarian cancer syndrome 2020-06-18 criteria provided, single submitter clinical testing This variant has been reported in individuals in the Leiden Open-source Variation Database (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 91567). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Val626*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product.
Ambry Genetics RCV003298129 SCV004004332 pathogenic Hereditary cancer-predisposing syndrome 2023-05-03 criteria provided, single submitter clinical testing The c.1875delA pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 1875, causing a translational frameshift with a predicted alternate stop codon (p.V626*). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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.
Sharing Clinical Reports Project (SCRP) RCV000077084 SCV000108881 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2009-10-30 no assertion criteria provided clinical testing

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