ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2193_2196del (p.Glu732fs)

dbSNP: rs397508947
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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) RCV000661150 SCV000783402 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 RCV000509916 SCV000607953 pathogenic Hereditary cancer-predisposing syndrome 2016-12-16 criteria provided, single submitter clinical testing The c.2193_2196delAGAA pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of 4 nucleotides at nucleotide positions 2193 to 2196, causing a translational frameshift with a predicted alternate stop codon (p.E732Rfs*3). This alteration has been reported in a Japanese patient with ovarian cancer at 56 years old (Matsushima M et al. Hum. Mol. Genet., 1995 Oct;4:1953-6). In addition to the clinical data presented in the literature, 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.
Invitae RCV001229132 SCV001401569 pathogenic Hereditary breast ovarian cancer syndrome 2021-02-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with breast and/or ovarian cancer (PMID: 8595420, 18489799). This variant is also known as 2311del4 or 2312del4 in the literature. ClinVar contains an entry for this variant (Variation ID: 54491). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu732Argfs*3) 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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