ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.6513_6514del (p.Ser2172fs)

dbSNP: rs1555284730
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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 RCV000541987 SCV000635507 pathogenic Hereditary breast ovarian cancer syndrome 2017-01-31 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). This sequence change deletes 2 nucleotides from exon 11 of the BRCA2 mRNA (c.6513_6514delGT), causing a frameshift at codon 2172. This creates a premature translational stop signal (p.Ser2172Thrfs*3) and is expected to result in an absent or disrupted protein product.
Ambry Genetics RCV000566065 SCV000661292 pathogenic Hereditary cancer-predisposing syndrome 2017-09-13 criteria provided, single submitter clinical testing The c.6513_6514delGT pathogenic mutation, located in coding exon 10 of the BRCA2 gene, results from a deletion of two nucleotides at nucleotide positions 6513 to 6514, causing a translational frameshift with a predicted alternate stop codon (p.S2172Tfs*3). 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.
Color Diagnostics, LLC DBA Color Health RCV000566065 SCV001346696 pathogenic Hereditary cancer-predisposing syndrome 2019-09-09 criteria provided, single submitter clinical testing This variant deletes 2 nucleotides 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. Splice site prediction tools suggest that this variant may not impact RNA splicing. To our knowledge, functional studies have not been performed for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. 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. Based on the available evidence, this variant is classified as Pathogenic.

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