ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.131_132del (p.Phe43_Cys44insTer)

dbSNP: rs1597911705
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000989915 SCV001140647 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2019-05-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV001010892 SCV001171148 pathogenic Hereditary cancer-predisposing syndrome 2021-06-21 criteria provided, single submitter clinical testing The c.131_132delGC pathogenic mutation, located in coding exon 2 of the BRCA1 gene, results from a deletion of two nucleotides at nucleotide positions 131 to 132, causing a translational frameshift with a predicted alternate stop codon (p.C44*). 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002222652 SCV002500391 likely pathogenic Hereditary breast ovarian cancer syndrome 2022-03-14 criteria provided, single submitter clinical testing Variant summary: BRCA1 c.131_132delGC (p.Cys44X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 250508 control chromosomes (gnomAD). c.131_132delGC has been reported in the literature in individuals affected with Hereditary Breast And Ovarian Cancer Syndrome (Nomura_2021, Milanezi_2019). These data indicate that the variant may be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Two ClinVar submitters have assessed the variant since 2014: both classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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