ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.8200_8209del (p.Asp2733_Pro2734insTer)

dbSNP: rs398122599
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Total submissions: 7
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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) RCV000077021 SCV000301253 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000508129 SCV000600790 pathogenic not provided 2017-05-08 criteria provided, single submitter clinical testing
GeneKor MSA RCV000508129 SCV000693587 pathogenic not provided 2020-01-01 criteria provided, single submitter clinical testing This is a deletion of 10 base pairs, which results in frameshift and creation of a new stop codon at amino acid residue 2734 of the BRCA2 gene. It is expected to result in a truncated, non-functional protein. This variant has not been described in the bibliography or in population databases (1000G, ExAC and ESP). The mutation database ClinVar contains an entry for this variant (Variation ID: 91504).
Ambry Genetics RCV001027273 SCV001189807 pathogenic Hereditary cancer-predisposing syndrome 2018-02-27 criteria provided, single submitter clinical testing The c.8200_8209del10 pathogenic mutation, located in coding exon 17 of the BRCA2 gene, results from a deletion of 10 nucleotides at nucleotide positions 8200 to 8209, causing a translational frameshift with a predicted alternate stop codon (p.P2734*). 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 RCV001070617 SCV001235878 pathogenic Hereditary breast ovarian cancer syndrome 2022-07-12 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: 91504). This premature translational stop signal has been observed in individual(s) with clinical features of BRCA2-related conditions (PMID: 21520333). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Pro2734*) 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).
Sharing Clinical Reports Project (SCRP) RCV000077021 SCV000108818 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2009-11-23 no assertion criteria provided clinical testing
BRCAlab, Lund University RCV000077021 SCV004243808 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2020-03-02 no assertion criteria provided clinical testing

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