ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5202del (p.Phe1734fs)

dbSNP: rs876659867
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Total submissions: 3
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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) RCV000660924 SCV000783161 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2017-12-15 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Ambry Genetics RCV000219797 SCV000276780 pathogenic Hereditary cancer-predisposing syndrome 2015-06-26 criteria provided, single submitter clinical testing The c.5202delT pathogenic mutation, located in coding exon 18 of the BRCA1 gene, results from a deletion of one nucleotide at position 5202, causing a translational frameshift with a predicted alternate stop codon. Since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).
Labcorp Genetics (formerly Invitae), Labcorp RCV000637704 SCV000759175 pathogenic Hereditary breast ovarian cancer syndrome 2022-12-02 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 232606). This premature translational stop signal has been observed in individual(s) with a personal or family history of breast and/or ovarian cancer (PMID: 29752822, 30982232). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Phe1734Leufs*31) 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).

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