ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5608_5613del (p.Phe1870_Ser1871del) (rs1064794661)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000479481 SCV000569675 uncertain significance not specified 2017-03-21 criteria provided, single submitter clinical testing This in-frame deletion of 6 nucleotides in BRCA2 is denoted c.5608_5613delTTCAGT at the cDNA level and p.Phe1870_S1871del (F1870_S1871del) at the protein level. The normal sequence, with the bases that are deleted in braces, is CAGT[TTCAGT]AAAG. Using alternate nomenclature, this variant would be defined as BRCA2 5836_5841delTTCAGT. This deletion occurs in a region that is not conserved and is located in the RAD51 biding domain BRCA1 (Roy 2012). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. Since in-frame deletions may or may not inhibit proper protein functioning, the clinical significance of this finding remains unclear at this time and we consider BRCA2 Phe1870_S1871del to be a variant of uncertain significance.
Invitae RCV000688853 SCV000816479 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-06-08 criteria provided, single submitter clinical testing This variant, c.5608_5613delTTCAGT, results in the deletion of 2 amino acids of the BRCA2 protein (p.Phe1870_Ser1871del), 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: 420724). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000758908 SCV000887849 uncertain significance not provided 2018-02-18 criteria provided, single submitter clinical testing

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