ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7436-14T>G (rs81002814)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000586432 SCV000073225 likely benign not provided 2018-12-10 criteria provided, single submitter clinical testing
Counsyl RCV000113757 SCV000488924 likely benign Breast-ovarian cancer, familial 2 2016-07-21 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586432 SCV000695065 likely benign not provided 2016-04-07 criteria provided, single submitter clinical testing Variant Summary: The c.7436-14T>G variant involves the alteration of a non-conserved nucleotide resulting in an intronic change. This variant is located at a position that is not widely known to affect splicing and 5/5 splicing prediction programs via Alamut predict no effect on the splice acceptor site. RT-PCR analysis of patient mRNA from lymphoblastoid cell lines revealed a wildtype splicing profile (Whiley_2011), showing the variant has no functional effect on splicing. The variant is absent from the large and broad populations of ExAC (0/~118,982 chromosomes); however, it could still be a rare polymorphism. The variant has been reported in the literature in one HBOC family that also has BRCA1 p.V1688del (not evaluated by us). It has also been reported to co-occur with a deleterious variant BRCA2 c.7069_7070delCT (p.Leu2357Valfs) in BIC in one sample, strongly suggesting for a likely benign outcome. Multifactorial probability based models also provide evidence for neutrality ( Lindor_2102). Taken together, this variant has currently been classified as likely benign.
GeneDx RCV000599965 SCV000715343 likely benign not specified 2017-09-25 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Color RCV000771298 SCV000903527 likely benign Hereditary cancer-predisposing syndrome 2018-01-25 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113757 SCV000147084 uncertain significance Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing

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