ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9102G>C (p.Gln3034His) (rs1336395181)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000586660 SCV000695211 uncertain significance not provided 2017-06-16 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.9102G>C (p.Gln3034His) variant involves the alteration of a non-conserved nucleotide. 2/3 in silico tools predict a damaging outcome for this variant (SNPsandGO and MutationTaster not captured). This variant is absent in 116668 control chromosomes. One reputable database classified this variant as VUS. 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.
Color RCV000777058 SCV000912740 uncertain significance Hereditary cancer-predisposing syndrome 2018-06-12 criteria provided, single submitter clinical testing
Invitae RCV000795065 SCV000934506 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-10-16 criteria provided, single submitter clinical testing This sequence change replaces glutamine with histidine at codon 3034 of the BRCA2 protein (p.Gln3034His). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and histidine. 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. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.

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