ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.4493del (p.Pro1498fs)

dbSNP: rs398122687
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Total submissions: 7
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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) RCV000077148 SCV000300130 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 RCV000077148 SCV000325988 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2015-10-02 criteria provided, single submitter clinical testing
Invitae RCV000257896 SCV000758989 pathogenic Hereditary breast ovarian cancer syndrome 2021-05-12 criteria provided, single submitter clinical testing 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 has been reported in individuals in the Leiden Open-source Variation Database (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 91631). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Pro1498Leufs*7) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000758832 SCV000887699 pathogenic not provided 2018-06-13 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001191623 SCV001359512 pathogenic Hereditary cancer-predisposing syndrome 2020-01-15 criteria provided, single submitter clinical testing This variant deletes 1 nucleotide in exon 14 of the BRCA1 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.
Sharing Clinical Reports Project (SCRP) RCV000077148 SCV000108945 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2007-03-22 no assertion criteria provided clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001353408 SCV000591523 pathogenic Malignant tumor of breast no assertion criteria provided clinical testing The p.Pro1498LeufsX7 variant has not been identified in the literature or in the public databases. The p.Pro1498LeufsX7 variant is predicted to cause a frameshift, which alters the protein's amino acid sequence beginning at codon 1498, leading to a premature stop codon 7 amino acids downstream, thus overall resulting in a truncated or absent BRCA1 protein. Loss of function of the BRCA1 gene is an established disease mechanism in familial breast and ovarian cancer patients, In summary, based on the above information, this variant is classified as pathogenic

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