ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.6155dup (p.Ser2053fs)

dbSNP: rs1566234047
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000687048 SCV000814599 pathogenic Hereditary breast ovarian cancer syndrome 2022-04-15 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: 567070). This variant has not been reported in the literature in individuals affected with BRCA2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser2053Ilefs*7) 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).
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000687048 SCV000918874 likely pathogenic Hereditary breast ovarian cancer syndrome 2018-01-19 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.6155dupC (p.Ser2053IlefsX7) variant results in a premature termination codon, predicted to cause a truncated or absent BRCA2 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 (e.g. c.6267_6269delinsC (p.Glu2089fsX2), c.6270_6271delTA (p.His2090fsX9), and c.6275_6276delTT (p.Leu2092fsX7)). This variant is absent in 245642 control chromosomes (gnomAD). The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as likely pathogenic.
Ambry Genetics RCV001024955 SCV001187053 pathogenic Hereditary cancer-predisposing syndrome 2023-11-22 criteria provided, single submitter clinical testing The c.6155dupC pathogenic mutation, located in coding exon 10 of the BRCA2 gene, results from a duplication of C at nucleotide position 6155, causing a translational frameshift with a predicted alternate stop codon (p.S2053Ifs*7). 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.

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