ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.6547del (p.Glu2183fs)

dbSNP: rs1566234899
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001052875 SCV001217109 pathogenic Hereditary breast ovarian cancer syndrome 2022-10-13 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu2183Asnfs*8) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). This premature translational stop signal has been observed in individual(s) with breast or ovarian cancer (PMID: 28294317, 30078507). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 849000).
Color Diagnostics, LLC DBA Color Health RCV001524607 SCV001734529 pathogenic Hereditary cancer-predisposing syndrome 2020-11-30 criteria provided, single submitter clinical testing This variant deletes 1 nucleotide in exon 11 of the BRCA2 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, functional studies have not been reported for this variant. This variant has been reported in individuals affected with breast or ovarian cancer (PMID: 28294317, 28664449, 30078507). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA2 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.

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