ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.4898T>C (p.Ile1633Thr)

gnomAD frequency: 0.00004  dbSNP: rs80358714
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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 RCV000220621 SCV000276073 likely benign Hereditary cancer-predisposing syndrome 2022-01-04 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Color Diagnostics, LLC DBA Color Health RCV000220621 SCV002053266 uncertain significance Hereditary cancer-predisposing syndrome 2021-06-08 criteria provided, single submitter clinical testing This missense variant replaces isoleucine with threonine at codon 1633 of the BRCA2 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has been identified in 10/249134 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Invitae RCV001850380 SCV002246493 likely benign Hereditary breast ovarian cancer syndrome 2022-12-25 criteria provided, single submitter clinical testing
University of Washington Department of Laboratory Medicine, University of Washington RCV000220621 SCV003852184 likely benign Hereditary cancer-predisposing syndrome 2023-03-23 criteria provided, single submitter curation Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673).
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003736616 SCV004563736 benign not provided 2023-08-21 criteria provided, single submitter clinical testing

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