ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5229_5231del (p.Ser1744del) (rs397507349)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129999 SCV000184823 uncertain significance Hereditary cancer-predisposing syndrome 2015-10-06 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Rarity in general population databases (dbsnp, esp, 1000 genomes),Insufficient or conflicting evidence
Color RCV000129999 SCV000903716 uncertain significance Hereditary cancer-predisposing syndrome 2018-07-11 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588412 SCV000694846 uncertain significance not provided 2016-12-27 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.5229_5231delTAG (p.Ser1744del) variant involves the deletion of three adjacent nucleotides resulted in frame deletion of one amino acid. One in silico tool predicts a disease-causing outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may affect ESE site of SRp40. However, these predictions have yet to be confirmed by functional studies. This variant is absent in 120118 control chromosomes. In addition, one clinical diagnostic laboratory classified this variant as uncertain significance, and SCRP classified this variant as pathogenic. 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. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS) until additional information becomes available.
Invitae RCV000806665 SCV000946678 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-12-04 criteria provided, single submitter clinical testing This variant, c.5229_5231delTAG, results in the deletion of 1 amino acid of the BRCA2 protein (p.Ser1744del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BRCA2-related disease. ClinVar contains an entry for this variant (Variation ID: 37953). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acid is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Sharing Clinical Reports Project (SCRP) RCV000031534 SCV000054139 pathogenic Breast-ovarian cancer, familial 2 2008-08-26 no assertion criteria provided clinical testing

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