ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.3805GTT[1] (p.Val1270del)

dbSNP: rs397507316
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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 RCV000228781 SCV000283218 uncertain significance Hereditary breast ovarian cancer syndrome 2023-09-08 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 37858). This variant has not been reported in the literature in individuals affected with BRCA2-related conditions. This variant, c.3808_3810del, results in the deletion of 1 amino acid(s) of the BRCA2 protein (p.Val1270del), but otherwise preserves the integrity of the reading frame.
Ambry Genetics RCV000575888 SCV000673089 uncertain significance Hereditary cancer-predisposing syndrome 2023-08-10 criteria provided, single submitter clinical testing The c.3808_3810delGTT variant (also known as p.V1270del) is located in coding exon 10 of the BRCA2 gene. This variant results from an in-frame GTT deletion at nucleotide positions 3808 to 3810. This results in the in-frame deletion of a valine at codon 1270. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Sharing Clinical Reports Project (SCRP) RCV000031439 SCV000054044 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 2010-02-19 no assertion criteria provided clinical testing

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